rs1333049(C;C) rs1333049 is located on chromosome 9. It has been reported in a large study to be associated with heart disease, in particular, coronary artery disease. The risk allele (oriented to the dbSNP entry) is most likely (C); the odds ratio associated with heterozygotes is 1.47 (CI 1.27-1.70), and for homozygotes, 1.9 (CI 1.61-2.24). This SNP has also been reported to have the highest association of any SNP studied in a subsequent experiment conducted with the resources of the German MI [Myocardial Infarction] Family Study. The initial studies were conducted on Caucasian populations. A subsequent study of Japanese and Korean patients has also found rs1333049 to be associated with increased coronary artery disease risk, with roughly similar odds ratios. Homozygous carriers of the CC genotype have an approx. 1.9x increased risk for CAD. www.snpedia.com/index.php/Rs1333049

rs10757278(G;G)rs10757278 is one of several SNPs clustered together in a region of chromosome 9 that has been linked to increased risk for heart disease and potentially diabetes. The overall estimate of heart disease cases that may involve this SNP (or related ones nearby) is said to be 20-30%. The risk allele is (G), which shows an increased association for myocardial infarctions ("MI"; heart attacks) both in general and more specifically in so-called early onset MI. The odds ratio for rs10757278(G;G) carriers relative to rs10757278(A:A) "noncarrier" individuals is 1.64 for Heart Attack 1.3x risk for Abdominal Aortic Aneurysm and Brain Aneurysm. Two copies of an SNP that increases risk of Myocardial Infarction (Heart Attack) and other Coronary Heart Disease. It has been shown that regularly eating raw vegetables and fruit can reduce the risk to the same level as people without any copies of this SNP. This SNP also increases risk of abdominal aortic aneurysm (weakened artery to the abdomen and legs), and brain aneurysm (weakened artery to the brain). Two other SNPs in this region with similar reports are rs10757274 and rs2383206.www.snpedia.com/index.php/rs10757278

rs279858(G;G)This SNP is located in the GABRA2 gene and has been linked to Alcoholism. The effect of this SNP, a synonymous change at amino acid residue 132, is unknown, but it does not change the GABRA2 protein sequence. Carriers of at least one rs279858(G) allele respond slower to the effects of alcohol and are thereby apparently more prone to alcoholism than carriers of two rs279858(A) alleles. Finasteride, an FDA approved drug for the treatment of benign prostatic hypertrophy and a modulator of GABRA2, was shown to have more of a blocking effect on rs279858(A) homozygotes. www.snpedia.com/index.php/Rs279858

rs6625163(A;A), rs1160312(A;G), rs6625163(A>G), rs1160312(A>G) Both SNPs are located within the genoset gs122. gs122 is associated with a 7x risk of baldness among men. Baldness is genetically associated with the haplotype gs122 at least in the Caucasian population. For rs1160312 the risk allele is assumed to be (A), for rs6625163 it is also A. The ability of gs122 to rule out going bald is reportedly high (in other words, if you are not positive for gs122, odds are good you will not go bald), but it is lacking in specificity.www.nature.com/ng/journal/v40/n11/full/ng.255.htmlwww.snpedia.com/index.php/Gs122

rs10490924(G;T) rs10490924(G>T) -> also known as c.205G>T, p.Ala69Ser and A69S, was identified as a risk factor from chromosome 10 related to age related macular degeneration. The risk allele is (T). The risk for heterozygotes is 2.69 increased. www.snpedia.com/index.php/Rs10490924

Erhöhtes Risiko für Hörverlust im Alter

rs1799930(A;A) Der SNP wurde mit einem 15.2x Risiko eines Hörverlusts im Alter assoziiert. This applies to the European and Turkish, but not Finnish populations. rs1799930 is a SNP in the NAT2 gene, potentially encoding a variant detoxifying protein known as an N-acetyltransferaseThe risk allele for this SNP is rs1799930(A), and homozygotes have been shown to have an 2.8-fold increased risk. www.snpedia.com/index.php/Rs1799930

Optimistic and empathetic; handle stress well

rs53576(G;G)rs53576(A>G). Studies have demonstrated that individuals with the G allele are more empathetic, feel less lonely, employ more sensitive parenting techniques, and have lower rates of autism.www.snpedia.com/index.php/Rs53576

Erhöhtes Risiko für Typ-1 und/oder Typ-2 Diabetes

rs9272346 (A;A) rs9272346 is located in the HLA-DQA1 gene, which codes for the alpha 1 subunit of the HLA-DQ MHC cell surface receptor, which is important for organ donation and immune diseases. The polymorphism has been reported to be associated with type-1 diabetes. The risk allele is (A); the odds ratio for homozygotes (AA) is 18.52. The P value is extremely significant at 5.47 × 10-134, considering the threshold for genome-wide significance. Although this SNP is found in approximately 1/3rd of all people, this variation appears to significantly increase risk of Type-1 diabetes. This increase of the relative risk changes the lifetime risk from a very small 0.04% to a still very small 0.75% chance. Note that the (A) allele is the most common in various human populations; instead of labeling (A) as a risk allele, we could consider the (G) allele protective.snpedia.com/index.php/Rs9272346

rs45562031 -> SLC4A1:uc002igf.4:exon4:c.118G>A:p.(Glu40Lys)0004 SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 MONTEFIORESLC4A1, GLU40LYS [dbSNP:rs45562031] [ClinVar]Spherocytosis is the presence in the blood of spherocytes, i.e erythrocytes (red blood cells) that are sphere-shaped rather than bi-concave disk shaped as normal. Hereditary spherocytosis and autoimmune hemolytic anemia are characterized by having only spherocytes. Spherocytosis is associated with a deficiency of erythrocyte band 3 protein. Spherocytosis type 4 (SPH4) is caused by heterozygous mutation in the band 3 gene (SLC4A1, EPB3; 109270) on chromosome 17q21. A study of 42 members from 4 generations of a family revealed a consistent linkage of spherocytosis with 1 particular haplotype generated by the 4 probes that were used. Rybicki et al. (1993) found a glu40-to-lys mutation in the cytoplasmic domain of the EPB3 gene. The mutation was homozygous; the proposita was the offspring of first-cousin parents born in the Dominican Republic, largely of Spanish origin with some black admixture. A striking feature was decreased RBC membrane content of protein 4.2 (177070) which was thought to be a secondary phenomenon resulting from defective interactions with band 3.en.wikipedia.org/wiki/Hereditary_spherocytosis

rs77775126 -> RP1:uc003xsd.1:exon4:c.1118C>T:p.(Thr373Ile).0006 RETINITIS PIGMENTOSA 1RP1, THR373ILE [dbSNP:rs77775126] [ClinVar]The identified mutation in the RP1 gene can lead to the disease in case of homozygosity. The inheritance is autosomal recessive. Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration affecting 1 in 3,000 to 5,000 people. Symptoms include night blindness, the development of tunnel vision, and slowly progressive decreased central vision starting at approximately 20 years of age. Upon examination, patients have decreased visual acuity, constricted visual fields, dyschromatopsia, and the classic fundus appearance with dark pigmentary clumps in the midperiphery and perivenous areas ('bone spicules'), attenuated retinal vessels, cystoid macular edema, fine pigmented vitreous cells, and waxy optic disc pallor. Fifty percent of female carriers of X-linked RP have a golden reflex in the posterior pole. In affected members of 2 consanguineous Pakistani families with retinitis pigmentosa, Khaliq et al. (2005) identified homozygosity for a 1118C-T transition in exon 4 of the RP1 gene, resulting in a thr373-to-ile (T373I) substitution predicted to abolish the glycogen synthase phosphorylation recognition site and to cause a conformational change in the protein. The parents and sibs of the patients who were heterozygous for the mutation had normal vision with no signs of RP on examination. www.omim.org/entry/180100

MC2R:uc002ksp.1:exon2:c.808G>A:p.(Val270Ile)Glucocorticoid deficiency, due to ACTH unresponsivenessGlucocorticoid deficiency-1 (GCCD1), or familial glucocorticoid deficiency (FGD1), is caused by a homozygous or compound heterozygous mutations in the gene encoding the melanocortin-2 receptor (MC2R), which is also referred to as adrenocorticotropin receptor (ACTHR), on chromosome 18p11. Familial glucocorticoid deficiency is a condition that occurs when the adrenal glands, which are hormone-producing glands located on top of each kidney, do not produce certain hormones called glucocorticoids. These hormones, which include cortisol and corticosterone, aid in immune system function, play a role in maintaining normal blood sugar levels, help trigger nerve cell signaling in the brain, and serve many other purposes in the body. The inheritance is autosomal recessive.ghr.nlm.nih.gov/condition/familial-glucocorticoid-deficiency

rs11214077 -> SDHD:uc001pmz.4:exon2:c.149A>G:p.(His50Arg) wurde z.B. “classified as benign in ClinVar.”, The variant is located in the gene for succinate-ubiquinone oxidoreductase, coding for an important enzyme complex in both the tricarboxylic acid cycle and the aerobic respiratory chains of mitochondria in eukaryotic cells and prokaryotic organisms. Several studies identified mutations in the gene in paraganglioma.Paragangliomas 1, with or without deafness (AD)Pheochromocytoma (AD)www.ncbi.nlm.nih.gov/clinvar/variation/6909/

rs9934438(T:T)-> Coumadin (warfarin) resistance.rs9934438(C>T) 1173C>T polymorphism in the VKORC1 gene. The T allele frequency was 38.8%. Individuals with the TT genotype who are treated with warfarin may require a lower coumadin/warfarin dose compared to patients with the TC or CC genotype. Other genetic and clinical factors may also influence a patient's required dose of warfarin. Persons with at least one T-allele had a statistically significant 19% (95% CI 2 to 40%) risk increase of calcification of the aortic wall compared to CC homozygous persons.www.snpedia.com/index.php/Rs9934438www.ncbi.nlm.nih.gov/clinvar/variation/37344/

rs4244285(G;A)rs4244285(G>A) is a SNP in the CYP2C19 gene, potentially encoding the CYP2C19*2 variant. This variant is the most common reason for poor metabolism of compounds like mephenytoin (an anti-convulsant), some antidepressants, the anti-platelet drug Plavix, and some drugs used for ulcer conditions of various types. In Caucasians, SNPs in CYP2C19 are relatively rare. A study of 1,477 subjects with acute coronary syndromes who were treated with clopidogrel as part of the Trial to Assess Improvement in Therapeutic Outcomes by Optimizing Platelet Inhibition with Prasugrel-Thrombolysis in Myocardial Infarction (TRITON-TIMI) 38 study concluded that rs4244285(A) allele carriers had a 1.53x increased risk for death from cardiovascular causes, myocardial infarction, or stroke, as compared with noncarriers.www.snpedia.com/index.php/Rs4244285www.pharmgkb.org/rsid/rs4244285

rs1333049(C;C) & rs10757278(G;G) & rs2383206(G;G)rs1333049(G>C) has been reported in a large study to be associated with heart disease, in particular, coronary artery disease. The risk allele (oriented to the dbSNP entry) is most likely (C); the odds ratio associated with heterozygotes is 1.47 (CI 1.27-1.70), and for homozygotes, 1.9 (CI 1.61-2.24). This SNP has also been reported to have the highest association of any SNP studied in a subsequent experiment conducted with the resources of the German MI [Myocardial Infarction] Family Study. It has been shown that regularly eating raw vegetables and fruit can reduce the risk to the same level as people without any copies of this SNP. rs10757278(A>G) is one of several clustered together in a region of chromosome 9 that has been linked to increased risk for heart disease and potentially diabetes. The overall estimate of heart disease cases that may involve this SNP is 20-30%. The risk allele, rs10757278(G), shows an increased association for myocardial infarctions ("MI"; heart attacks) both in general and more specifically in so-called early onset MI. The odds ratio for rs10757278(G;G) individuals relative to rs10757278(A:A) "noncarrier" individuals is 1.64 (CI: 1.47-1.82), and for carriers of one risk allele, i.e. rs10757278(A;G) individuals, 1.26. rs2383206(A>G) can significantly increase the risk of heart disease. About one in every four Caucasians are thought to carry the variants, and their risk of coronary heart disease is increased by 30 to 40%. The chromosomal region where these SNPs are located is 9p21, and has no known genes.www.snpedia.com/index.php/Rs1333049www.snpedia.com/index.php/rs10757278www.snpedia.com/index.php/Rs2383206

rs2200733(T;T)rs2200733(C>T) was found to be associated with atrial fibrillation in a study of European and Asian populations. The odds ratio associated with one or more copies of the risk allele was ~1.5x increased risk of Atrial Fibrillation and ischemic stroke. The risk allele affects the formation of the heart and gives a higher risk of Atrial Fibrillation (quivering of the top part of the heart), and Cardioembolic and Ischemic strokes (blocked blood flow to the brain). Based on several quality studies.www.snpedia.com/index.php/Rs2200733

rs2943634(C;C)rs2943634(C>A) is a SNP found to be reproducibly associated with heart disease-> higher risk of ischemic stroke. It is associated with high density lipoprotein (HDL) cholesterol.www.snpedia.com/index.php/Rs2943634

rs6318(C;-)rs6318 is a SNP within the serotonin 2C receptor gene located on the X chromosome. Since it is located on the X chromosome, males will be hemizygous and either (C;-) or (G;-), whereas females will either homozygous (C;C) or (G;G) or heterozygous (C;G). In most of the studies heterozyous (C;G) females were roughly statistically equivalent to females carrying the common non-risk (G;G) genotype. (C;-) males or (C;C) females have an 1.4x increased risk for cardiac events; apparently stress (cortisol) related. Possibly, stronger emotional response to stress, and slightly (?) higher risk for affective disorders (major depressive and bipolar disorders). Poorer lipid profiles have also been reported.www.snpedia.com/index.php/Rs6318

rs10830963(G;G), rs3781638(C;T), rs1801282(C;G), rs17817449(T;G) - Erhöhtes Risiko für Übergewicht, Fettleibigkeit und Diabetes rs10830963(C>G) was significantly associated with higher fasting plasma glucose concentrations and reduced insulin release.rs3781638(C>T) displayed significant association with lower fasting plasma glucose levels and increased OGTT-induced insulin release. A study totaling 19,000+ Europeans concluded that rs10830963 had the most influence of any gene SNP on the risk for type-2 diabetes.rs1801282(C>G) is a common SNP in the peroxisome proliferator-activated receptor PPARG gene. The more common (C) allele (in dbSNP orientation) encodes the 'Pro' amino acid at this SNP position. The SNP.has been reported to be associated with metabolic syndrome, but other studies have not been able to replicate any strong or significant effect. Reportedly, the (G) allele increased the risk of isolated impaired fasting glycemia (OR=1.64) but not isolated impaired glucose tolerance.rs17817449(T>G) is located within the FTO gene and has been associated with body weight. The G-allele confers a ~1.3x increased obesity risk. However, the SNP showing the strongest association with body weight (i.e. body mass index, BMI) is not rs17817449, although this SNP is one of co-inherited SNPs in the FTO gene region. rs10830963(G;G) -> www.snpedia.com/index.php/rs10830963rs13266634(C;T) -> www.snpedia.com/index.php/rs13266634rs1801282(C;G) -> www.snpedia.com/index.php/Rs1801282rs17817449(T;G) -> www.snpedia.com/index.php/Rs17817449

rs910873(A;G) Melanom & Plattenepithelkarzinomrs910873(G>A) has been associated with an 1.7x increased risk of melanoma and an increased risk of squamous cell carcinoma in dominant models (G;A or A;A; dominant) www.snpedia.com/index.php/Rs910873

rs10974944(C;G) & rs12340895(C;G) Erhöhtes Risiko für myeloproliferative Neoplasien (chronischen Bluterkrankungen):rs10974944 is located in the JAK2 gene which appears to predispose to V617F-positive neoplasms; The SNP was associated with a 4-fold increased odds of V617F-associated MPNs. rs12340895(C>G). People with a G at rs12340895 have about two times the odds of developing V617F-positive MPN compared to people without the disease. have about three times higher odds of developing V617F-positive MPN compared to individuals without the A version."www.snpedia.com/index.php/rs12340895

rs6152(A;A) Reduziertes Risiko für männliche Glatzenbildung rs6152(G>A), located in the first exon of the androgen receptor AR gene on the X chromosome, is highly indicative of the ability to develop male pattern baldness. The risk allele is (G). However, although it appears to be necessary for baldness to develop, other (as yet unknown) variations must also be present for baldness to actually occur. Since this SNP is on the X chromosome, and affects a trait primarily seen only in males, a single allele is shown as representing the individual's genotype. However, baldness may also occur in females, presumably only in females homozygous for rs6152(G;G) and also harboring the (as yet unknown) additional variations required for baldness.www.snpedia.com/index.php/Rs6152www.nature.com/ng/journal/v40/n11/full/ng.255.html

rs1799971(A;G)Möglicherweise erhöhtes Risiko für Alkohol/Heroin-Abhängigkeit The rs1799971(G) allele in exon 1 of the mu opioid receptor OPRM1 gene causes the amino acid asparagine (Asn) at residue 40, to be replaced by aspartic acid (Asp). Carriers of at least one rs1799971(G) allele appear to have stronger cravings for alcohol than carriers of two rs1799971(A) alleles, and are thus possibly at higher risk for alcoholism. However, research results are mixed, and there are studies both agreeing or disagreeing with this finding. www.snpedia.com/index.php/Rs1799971

Charaktereigenschaften:

rs4680(A;A)rs4680(G>A) is a well studied SNP in the COMT gene. The COMT gene codes for the COMT enzyme, which breaks down dopamine in the brain's prefrontal cortex. The wild-type allele is a (G), coding for a valine amino acid; the (A) substitution polymorphism changes the amino acid to a methionine. This alters the structure of the resultant enzyme such that its activity is only 25% of the wild type. As a result, A allele carriers have more dopamine in their prefrontal cortex, which may be responsible for many of the neuropsychological associations listed below. rs4680(A) = Worrier. Lower COMT enzymatic activity, therefore higher dopamine levels; lower pain threshold, enhanced vulnerability to stress, yet also more efficient at processing information under most conditions. rs4680(G) = Warrior. higher COMT enzymatic activity, therefore lower dopamine levels; higher pain threshold, better stress resiliency, albeit with a modest reduction in executive cognition performance under most conditions. www.snpedia.com/index.php/Rs4680

rs53576(G;G) -> Optimistic and empathetic; handle stress wellrs53576(A>G). Studies have demonstrated that individuals with the G allele are more empathetic, feel less lonely, employ more sensitive parenting techniques, and have lower rates of autismwww.snpedia.com/index.php/Rs53576

The CDKN2A gene encodes proteins that regulate 2 critical cell cycle regulatory pathways, the p53 (TP53; 191170) pathway and the RB1 (614041) pathway. Through the use of shared coding regions and alternative reading frames, the CDKN2A gene produces 2 major proteins: p16(INK4), which is a cyclin-dependent kinase inhibitor, and p14(ARF), which binds the p53-stabilizing protein MDM2.www.ncbi.nlm.nih.gov/clinvar/variation/142725/www.omim.org/entry/600160

Möglicherweise erhöhtes Risiko für NierenschädenFN1:uc002vfa.3:exon29:c.4631A>T:p.(Asp1544Val) -> Glomerulopathy with fibronectin deposits. Fibronectin-1 belongs to a family of high molecular weight glycoproteins that are present on cell surfaces, in extracellular fluids, connective tissues, and basement membranes. Fibronectins interact with other extracellular matrix proteins and cellular ligands, such as collagen, fibrin, and integrins. Fibronectins are involved in adhesive and migratory processes of cells. Two major forms of fibronectin exist: a plasma soluble form and a cellular form. Alternatively spliced FN1 EDA and EDB are prominently expressed during wound healing, lung, liver and kidney fibrosis, vascular intimal proliferation, and cardiac transplantation. Glomerulopathy with Fibronectin Deposits 2. In patients with glomerulopathy with fibronectin deposits 3 heterozygous mutations in the FN1 gene were identified.www.omim.org/entry/135600

rs1800460(A;G). rs1800460 is a SNP in the TPMT gene, potentially encoding a variant incapable of detoxifying byproducts of certain antineoplastic and immunosuppressant drugs. In general, individuals must have two nonfunctioning TPMT alleles for the toxicity to be pronounced. The risk allele for this SNP is rs1800460(A), and when it is the only variation in the TPMT gene, it encodes the TPMT*3B allele. This SNP is more common in Caucasians (4.5% of all alleles) than in African-Americans (0.8%). rs1800462(C;G) rs1800462, also known as A80P, is a rare SNP in the TPMT gene, potentially encoding a variant incapable of detoxifying byproducts of certain antineoplastic and immunosuppressant drugs. In general, individuals must have two nonfunctioning TPMT alleles for the toxicity to be pronounced. The risk allele for this SNP (in orientation to the dbSNP entry) is rs1800462(C), and it encodes the TPMT*2 allele. It may occur at a frequency of 1 in 200 alleles among Caucasians. Thiopurine drugs metabolized by TPMT include azathioprine, mercaptopurine, and thioguanine Individual differences in TPMT activity associated with this SNP are now used to determine appropriate dosage range and interval for treatment.www.snpedia.com/index.php/Rs1800460www.snpedia.com/index.php/Rs1800462www.ncbi.nlm.nih.gov/clinvar/variation/37126/www.ncbi.nlm.nih.gov/books/NBK100661/

rs11591147(G;T)rs11591147 is a SNP in the PCSK9 gene. The T-allele is associated with lower LDL cholesterol levels & two to three fold lower risk for both early- and late-onset cardiovascular disease. In a study on over 300,000 individuals rs11591147 was the SNP with the greatest effect on LDL-C and cardiovascular risk reduction. www.snpedia.com/index.php/Rs11591147www.ncbi.nlm.nih.gov/clinvar/variation/2878/

rs3732379(T;T)rs3732379(C>T) is a polymorphisms in the chemokine receptor gene CX3CR1. This gene polymorphisms in combination with clinical and demographic factors predicts late survival in diffuse large B-cell lymphoma patients in the pre-rituximab era. The polymorphism has also been reported as one of several polygenic host components that regulates the progression to clinical AIDS in HIV-1-infected individuals. www.ncbi.nlm.nih.gov/clinvar/variation/8152/science.sciencemag.org/content/287/5461/2274.long

rs1801133(T;T)rs1801133(C>T) is a SNP that is relatively common and has been studied extensively. It encodes a variant in the MTHFR gene also known as C677T, Ala222Val, and A222V, which encodes an enzyme involved in folate metabolism. Homozygous rs1801133(T;T) individuals have ~30% of the expected MTHFR enzyme activity, resulting in high homocysteine, low B12 and folate levels. Moderately increased odds of having a child with a neural tube defect. Slightly increased risk for several other diseases. Research on MTHFR-influenced health conditions have been inconclusive or conflicting. Based on the existing data, people should not interpret their genotypes at the common MTHFR variants as having an effect on their health. www.snpedia.com/index.php/Rs1801133(T;T)www.snpedia.com/index.php/Rs1801133www.ncbi.nlm.nih.gov/clinvar/variation/3520/

rs5888 is a SNP in the scavenger receptor class B, member 1 SCARB1 gene. In a case-control study of two Caucasian populations totaling 2,498 patients, rs5888(C;T) heterozygotes had an increased odds ratio of 2.9 (CI: 1.6-5.3, p<0.002) for age-related macular degeneration.

rs1061170 is a SNP in the complement factor H CFH gene. The rs1061170(T) allele encodes the more common Tyr (Y), while the generally rarer rs1061170(C) encodes the His (H). This SNP has been associated with a 2.5-fold increased risk for age related macular degeneration.

rs1815739(C;C)the rs1815739(C>T) SNP is located in the ACTN3 gene and encodes a premature stop codon in a muscle protein called alpha-actinin-3. The homozygous T;T genotype is under-represented in elite strength athletes, consistent with previous reports indicating that alpha-actinin-3 deficiency appears to impair muscle performance. This genotype indicates better performing muscles, particularly for sprinting and power sports. However, some studies failed to replicate the data. www.snpedia.com/index.php/Rs1815739

rs2070744(T;T)rs2070744(T>C) is located in the promoter region of the NOS3 gene which encodes nitric oxide synthase 3. The C-allele, which is rare in the Caucasian population, is associated with higher levels of the corresponding mRNA and associations with: rheumatoid Arthritis, cardiovascular mortality in high-risk patients, and progression (but not occurence) of prostate cancer. Men who carry the C allele responded more favorably to the antihypertensive effects of aerobic exercise.www.snpedia.com/index.php/Rs2070744(T;T)

rs17822931(T;T) Dry earwaxrs17822931(C>T) is a SNP in the ATP-binding cassette, sub-family C (CFTR/MRP), member 11 ABCC11 gene. The ABCC11 protein helps to transport small molecules across apical membranes such as those in apocrine secretory cells. This SNP determines wet vs dry earwax as well as sweat production. The majority of Europeans are homozygous CC while Asians are homozygous TT. rs17822931(T;T) individuals were at least 5-fold less likely to use deodorant.www.snpedia.com/index.php/Rs17822931(Background: Human earwax consists of wet and dry types. Dry earwax is frequent in East Asians, whereas wet earwax is common in other populations. The ABCC11 gene is responsible for determination of earwax type. Geographical data suggest that the T-allele arose in northeast Asia and thereafter spread through the world. Migration of humans can be traced using the ABCC11 gene alleles. A simulation experiment using a pseudo-sampling variable revealed that the mutation of rs17822931-T occurred 2006 generations (ca. 40.000 years) ago in an ancient northern Mongoloid tribe. Assuming a recessive selection model, a coalescent-based simulation approach suggested that the selection coefficient of rs17822931-T had been approximately 0.01 in the East Asian population. The selective advantage of rs17822931-T was apparently related to an adaptation to cold climate. The results provide a striking example of how local adaptation has played a significant role in the diversification of human traits, that followed a spread of the dry ear wax allele to other regions of Asia via migration of the ancient tribe.) en.wikipedia.org/wiki/ABCC11#Demographics) Ohashi J et al. Mol Biol Evol. 2011;28:849-5

Wahrnehmung von bitterem Geschmack

rs10246939(T;C), rs1726866(T;C), rs713598(G;C)The 3 SNPs are located in the gene TAS2R38. You are heterozygous at all 3 of the SNPs which are known to influence the ability to taste bitterness. This means you are better than average at detecting bitter tastes while young, but that this ability will decrease to less than average during adulthood. As a child you will probably hate brussel sprouts, and by early adulthood will discover that olives and brussel sprouts now taste good. In 2010, a study showed that the change of bitter sensitivity over the lifespan (from bitter sensitive to less so) is more common in people with this genoset. www.snpedia.com/index.php/Gs227

PRSS56:uc021vyh.1:exon8:c.904G>T:p.(Val302Phe), rs74703359 -> Carrier status for autosomal recessive microphthalmia (Microphthalmia, isolated 6).Microphthalmia is an eye abnormality that arises before birth. The inheritance is autosomal recessive. In microphthalmia, one or both eyeballs are abnormally small. In individuals affected with severe disease the eyeball may be completely missing; however, even in these cases some remaining eye tissue is generally present. Microphthalmia may or may not result in significant vision loss..People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision. People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). ghr.nlm.nih.gov/condition/microphthalmiawww.ncbi.nlm.nih.gov/clinvar/variation/183171/www.omim.org/entry/613858www.ncbi.nlm.nih.gov/pubmed/21850159

rs147136339(A;G) Malignant hyperthermia susceptibility (MHS) Die genetische Variante führt möglicherweise zu einem erhöhten Risiko für eine schwere Narkose-bedingte Komplikation (allerdings ist die Variante in der Bevölkerung häufiger als die Erkrankung, daher ist eine Kausalität eher unwahrscheinlich).One form of malignant hyperthermia (MHS1) is caused by heterozygous mutation in the ryanodine receptor gene (RYR1; 180901) on chromosome 19q13. RYR1:uc002oit.3:exon86:c.11798A>G:p.(Tyr3933Cys), rs147136339 Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population. Anaesthesia for known MH susceptible patients requires avoidance of triggering agents (all volatile anaesthetic agents and succinylcholine). All other drugs are safe (including nitrous oxide), as are regional anaesthetic techniques.www.ncbi.nlm.nih.gov/clinvar/variation/133021/www.omim.org/entry/145600

CDH1:uc002ewg.1:exon15:c.2336G>A:p.(Arg779Gln), rs587781311Die genetische Variante führt möglicherweise zu einem erhöhten Risiko für Magenkrebs (unklare Datenlage, eher unwahrscheinlich) CDH1 cadherin gene. The CDH1 gene encodes E-cadherin, a calcium ion-dependent cell adhesion molecule that functions in the establishment and maintenance of epithelial cell morphology during embryogenesis and adulthood. Development of malignant tumors is in part characterized by the ability of a tumor cell to overcome cell-cell adhesion and to invade surrounding tissue. E-cadherin, the main adhesion molecule of epithelia, has been implicated in carcinogenesis because it is frequently lost in human epithelial cancers. Heterozygous CDH1 mutation carriers have a 70 to 80% lifetime risk of developing diffuse gastric cancer. In addition to gastric cancer, up to 60% of female mutation carriers develop lobular carcinoma of the breast, and some carriers may develop colorectal cancer. Identification of mutation carriers is important, because the characteristic microscopic foci of signet ring cell adenocarcinoma in HDGC usually involves the submucosa and is often not readily detectable by routine upper endoscopy screening (summary by Fitzgerald et al., 2010). Hereditary diffuse gastric cancer is an autosomal dominant cancer predisposition syndrome.www.ncbi.nlm.nih.gov/clinvar/variation/140840/www.omim.org/entry/192090

gs122 7x risk of baldness among men. Baldness is genetically associated with the haplotype gs122 consisting of rs201571(T) - rs6036025(G) and rs1160312(A), at least in the Caucasian population. For rs1160312 the risk allele is assumed to be (A). The ability of gs122 to rule out going bald is reportedly high (in other words, if you are not positive for gs122, odds are good you will not go bald), but it is lacking in specificity (negative predictive value = 96.5%, positive predictive value = 12.2%, sensitivity = 98.2%, specificity = 6.6%).www.nature.com/articles/ng.255

rs1421085(C;C)rs1421085(T>C) is a SNP located in the first intron of the FTO (fat mass and obesity associated) gene on chromosome 16 and that has been associated with body weight. The homozygous CC genotype confers a ~1.7x increased obesity risk. However, the SNP showing the strongest association with body weight (i.e. body mass index, BMI) is not this SNP.www.nejm.org/doi/abs/10.1056/NEJMoa1502214www.nature.com/articles/ng.301

rs1800497(C>T), a SNP in the dopamine D2 receptor DRD2 gene. The minor allele (rs1800497(T)) is associated with a reduced number of dopamine binding sites in the brain, and has been postulated to play a role in alcoholism, smoking, and certain neuropsychiatric disorders. Many controversial reports have been published over more than ten years either linking rs1800497 to aspects of nicotine use and smoking cessation success, or finding no such association. A meta-analysis of 41 such studies published in 2004 concluded that overall the association of rs1800497 with such phenomena was statistically weak. More recently, a relatively large study investigated the success of the drug bupropion. It showed that smokers homozygous for the TT genotype were more successful than TC or CC individuals. Bupropion only helped TT genotype carriers to stop smoking. www.snpedia.com/index.php/Rs1800497www.pharmgkb.org/variant/PA166154339/clinicalAnnotation

rs1061170(C;T) rs1061170 is a SNP in the complement factor H CFH gene; it is also known as Tyr402His or p.Y402H. The rs1061170(T) allele encodes the more common Tyr (Y), while the generally rarer rs1061170(C) encodes the His (H). The heterozygous genotype has been associated primarily with 2.5x risk for AMD (age related macular degeneration)www.snpedia.com/index.php/rs1061170; http://science.sciencemag.org/content/308/5720/421

rs2511989(A;G) rs2511989(A;G). The SNP is located in the Complement 1 Inhibitor (C1INH/SERPING1). The heterozygous genotype has been associated with a 0.63x decreased age-related macular degeneration riskwww.snpedia.com/index.php/rs2511989

rs7221412(G;G) -> Late riser. rs7221412(A>G) is a common polymorphism near PER1 influencing the timing of human behavioral rhythms. A study showed that the SNP had influence on wake-up times. It suggests that common (but unidentified) polymorphisms may be associated with a preference for daytime or nighttime activity.www.snpedia.com/index.php/Rs7221412

gs159 comprises rs762551rs762551(C>A) is a SNP in the CYP1A2 gene. The rs762551(C) allele is considered the wild-type, even though it is the rarer allele in most populations. The rs762551(A) allele is the "fast metabolizer" allele known as CYP1A2*1F; the (C) allele is by comparison a slower metabolizer of certain substrates (including caffeine).Ciprofloxacin is also metabolized by CYP1A2, but is unclear if the genotype has an influence on its effect.www.snpedia.com/index.php/gs159www.snpedia.com/index.php/gs159

rs1799853(C;T) rs1799853 is a SNP in the CYP2C9 gene and is linked to poor warfarin metabolism and risk of GI bleeding with some NSAID drugs. The common nomenclature for this polymorphism is CYP2C9*2 (the amino acid is Cys, the SNP is also known as C430T or Cys144Arg). The rs1799853(T) allele encodes the variant amino acid cysteine, which has been linked to poor metabolism of warfarin. Heterozygous rs1799853(C>T) carriers have a ~20% reduction in warfarin metabolism.www.snpedia.com/index.php/Rs1799853

Gs151 This genoset of SNPs has been linked to the phenotype CYP2C19 Intermediate Metabolizer. Your body breaks down some medicines at a slightly slower than normal rate:*anti-epileptics (such as diazepam, phenytoin, and phenobarbitone) *anti-depressants (such as amitriptyline and clomipramine) *anti-platelet drug clopidogrel (Plavix)*anti-ulcer proton pump inhibitors like omeprazole (trade names Losec and Prilosec), esomeprazole (trade name Nexium), and lansoprazole (Prevacid) *hormones (estrogen, progesterone).www.snpedia.com/index.php/Gs151

rs6625163(A;A) rs1160312(A;G) rs6625163(A>G) und rs1160312(A>G)gs122 7x increased risk of baldness among men.Baldness is genetically associated with the haplotype gs122 consisting of rs201571(T) - rs6036025(G) and rs1160312(A), at least in the Caucasian population. For rs1160312 the risk allele is assumed to be (A). The ability of gs122 to rule out going bald is reportedly high (in other words, if you are not positive for gs122, odds are good you will not go bald), but it is lacking in specificity (negative predictive value = 96.5%, positive predictive value = 12.2%, sensitivity = 98.2%, specificity = 6.6%).www.nature.com/articles/ng.255www.snpedia.com/index.php/Gs122

Erhöhtes Risiko für Nikotin-Abhängigkeit

rs16969968(A;A) rs16969968(G>A) was associated with smoking phenotype (p=0.007) based on an association study in more than 2,000 individuals. Functional studies demonstrated that the risk allele decreased response level to a nicotine agonist, therefore the rs16969968(A) allele is likely to be involved in nicotine dependence.A study of 200 individuals replicated the association between this SNP and nicotine dependence, and also concluded that the rs16969968(A) allele was significantly associated with "enhanced pleasurable responses" to a person's first cigarette.www.snpedia.com/index.php/Rs16969968

rs5888(C;T), rs10490924(G;T), rs1061170(C;T) rs5888 is a SNP in the scavenger receptor class B, member 1 SCARB1 gene. In a case-control study of two 2,498 Caucasian patients, rs5888(C;T) heterozygotes had an increased odds ratio of 2.9 (CI: 1.6-5.3, p<0.002) for age-related macular degeneration (ARMD) based on a pooled analysis.

rs10490924, also known as c.205G>T, p.Ala69Ser and A69S, was identified as a risk factor from chromosome 10 related to age related macular degeneration. The risk allele is (T). Odds ratios for heterozygotes are 2.69.

rs10974944(C;G) rs10974944(C>G) is a germline SNP in JAK2 which is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms..The rare G allele of the JAK2 rs10974944 SNP has been associated with JAK2 V617F-positive myeloproliferative neoplasms.www.snpedia.com/index.php/Rs10974944

Resistenz gegen Norovirus-Infektionen

rs601338(A;A) rs601338(G>A) is located on chromosome 19 in the alpha(1,2)-fucosyltransferase FUT2 gene. The wild-type rs601338(G) encodes the "secretor" allele, while rs601338(A) encodes the "non-secretor" allele. A study of 115 Swedish adults concluded that rs601338(A;A) homozygotes have genetic immunity to infection by the Norwalk norovirus, a major (and contagious) cause of acute gastroenteritis among adults worldwide.www.snpedia.com/index.php/Rs601338

Wahrnehmung von bitterem Geschmack

rs10246939(T;C), rs1726866(T;C), rs713598(G;C) The 3 SNPs are located in the gene TAS2R38. You are heterozygous at all 3 of the SNPs which are known to influence the ability to taste bitterness. This means you are better than average at detecting bitter tastes while young, but this ability will decrease to less than average during adulthood. As a child you will probably hate brussel sprouts, and by early adulthood will discover that olives and brussel sprouts now taste good. In 2010, a study showed that the change of bitter sensitivity over the lifespan (from bitter sensitive to less so) is more common in people with this genoset. www.snpedia.com/index.php/Gs227www.snpedia.com/index.php/Gs227

Charaktereigenschaften

rs53576(G;G) -> Optimistic and empathetic; handle stress wellrs53576(A>G). Studies have demonstrated that individuals with the G allele are more empathetic, feel less lonely, employ more sensitive parenting techniques, and have lower rates of autismwww.snpedia.com/index.php/Rs53576

Laktose-Toleranz:

(rs4988235(C;T), rs4988235(T;T), rs182549(C;T),rs182549(T;T)You are a carrier of a genoset of SNPs which has been associated with lactose tolerance. 77% of Europeans with this genoset are able to digest lactose and dairy products. People without this are more likely to experience lactose intolerance.www.snpedia.com/index.php/gs101

rs1799945(C;G) -> One copy of H63D, carrier of hemochromatosis,rs1799945, also known as H63D or His63Asp, represents a SNP that accounts for a mild form of hereditary hemochromatosis (HH), an iron overload condition in which mutations of certain genes involved in iron metabolism disrupt the body’s ability to regulate uptake of iron, causing increased intestinal iron absorption. The most common form is caused by mutations in the HFE gene, which are inherited recessively. In 1996, HFE, a gene for HH, was found to have two missense mutations. A mutation at amino acid 282 (C282Y) was found to be homozygous in 83 percent of patients with HH. This is a point mutation from guanine to adenine, resulting in a missense mutation from cysteine to tyrosine. Such mutations are commonly found in people with European ancestry. Among individuals of northern European descent, hereditary hemochromatosis is the most common inherited genetic disorder. Importantly, penetrance differs between different populations. Carriers are likely unaffected unless they are also C282Y carriers.Roughly one in 200 individuals with European ancestry has two copies of C282Y and roughly one in 10 carries one copy of this mutation. Although more than 70% of people with two copies of C282Y will exhibit evidence of iron overload in blood tests, only a small percentage of people with this genotype will actually develop clinical symptoms such as liver disease and arthritis.

A Historical Perspective on Hemochromatosis

The relatively high frequency of the C282Y mutation in people with European ancestry has prompted scientists to speculate that despite the dangers of high iron levels, there was at some point in the evolutionary past an advantage to having this genetic change. Several theories have been proposed. One is that variation in the HFE gene arose as people began farming and increased their consumption of cereal grains, which are lower in iron content than the red meat that predominated in stone age diets. Another theory is that increased iron levels were advantageous because they protected women against iron deficiency by menstruation and childbirth. Another theory takes into account the fact that HH actually leads to a reduction of iron levels in macrophages, which may have given people an advantage in the past by making them resistant to certain infections. None of these theories has been proven.

The gene is involved in N-linked glycosylation in all eukaryotic cells with the synthesis of lipid-linked oligosaccharides in a cyclic pathway, the dolichol cycle. DPAGT1 (EC 2.7.8.15) catalyzes the first step in the dolichol cycle, the synthesis of N-acetylglucosaminyl-pyrophosphoryldolichol (GlcNAc-PP-dolichol) from dolichol phosphate and UDP-GlcNAc, and can be inhibited by the antibiotic tunicamycin.

rs4244285(A;A)rs4244285 is a SNP in the CYP2C19 gene, potentially encoding the CYP2C19*2 variant. This variant is the most common reason for poor metabolism of compounds like mephenytoin (an anti-convulsant), some antidepressants, the anti-platelet drug Plavix, and some drugs used for ulcer conditions of various types. The risk allele is rs4244285(A). As a nonfunctioning CYP2C19, this variant would be expected to be a poor metabolizer of several commonly prescribed drugs, including anti-ulcer drugs like omeprazole (trade names Losec and Prilosec), esomeprazole (trade name Nexium), and lansoprazole (trade name Prevacid). In Caucasians, SNPs in CYP2C19 are relatively rare (in contrast to SNPs in CYP2D6), but SNPs in this gene are common in Asians. As a nonfunctioning CYP2C19, this variant would be expected to be a poor metabolizer of several commonly prescribed drugs, including anti-ulcer drugs like omeprazole (trade names Losec and Prilosec), esomeprazole (trade name Nexium), and lansoprazole (trade name Prevacid). Ulcer treatment with omeprazole to reduce Helicobacter pylori has been shown to vary depending on a patient's CYP2C19 genotype, varying from 28% in patients homozygous for CYP2C19 alleles encoding fully functional proteins to 100% in patients with variations leading to poor metabolism. The fact that poor metabolizers for many cytochrome p450s achieve higher therapeutic success for some drugs is speculated to be because for some of the drug being broken down (ie metabolized) slower, the effective concentrations are both higher and longer lasting.Patients prescribed Plavix get less benefit, and have higher risk for adverse cardiovascular events. This has now (2010) been acknowledged by the FDA, who have added a boxed warning to Plavix, alerting patients and health care professionals that the drug can be less effective in people who have CYP2C19 variants and cannot convert the drug as effectively to its active form.www.snpedia.com/index.php/Rs4244285

rs1421085(C;C) rs1421085 (T>C) is a SNP located in the first intron of the FTO (fat mass and obesity associated) gene on chromosome 16. This SNP showed association with obesity in the original work by Dina et al. The risk allele is C.www.snpedia.com/index.php/rs1421085

rs1121980(T;T)rs1121980 is a SNP in the FTO gene, which showed strong association of several SNPs in the region with early onset obesity in a study of ~1,000 Caucasians. The T-allele was associated with a moderate increase (2.76x) in risk for obesity. www.snpedia.com/index.php/rs1121980(T;T)&nbsp;

rs9939609(A;A)rs9939609(T>A) is a SNP in the fat mass and obesity associated FTO gene. The increases in body mass index associated with rs9939609(A) appears to begin at a young age and are maintained throughout adulthood, according to a study of 5,600+ Utah families.www.snpedia.com/index.php/rs9939609&nbsp;

rs1801282(C;G)rs1801282(C>G) is a common SNP in the peroxisome proliferator-activated receptor PPARG gene. The more common (C) allele (in dbSNP orientation) encodes the 'Pro' amino acid at this SNP position. rs1801282 has been reported to be associated with metabolic syndrome, but other studies have not been able to replicate any strong or significant effect. www.snpedia.com/index.php/rs1801282(C;G)&nbsp;

rs13266634(C;T)rs13266634(C>T) is a SNP in the zinc transporter protein member 8 SLC30A8 gene that has primarily been associated with type-2 diabetes in several studies. 46% of European non-diabetic offspring of type-2 diabetes patients are rs13266634(C;C) homozygotes; they are diabetes-prone and characterised by a 19% decrease in first-phase insulin release following an intravenous glucose load. www.snpedia.com/index.php/rs13266634&nbsp;

Reduziertes Risiko für männliche Glatzenbildung

rs6152(A;A)rs6152(G>A), located in the first exon of the androgen receptor AR gene on the X chromosome, is highly indicative of the ability to develop male pattern baldness. The risk allele is (G). However, although it appears to be necessary for baldness to develop, other (as yet unknown) variations must also be present for baldness to actually occur. Since this SNP is on the X chromosome, and affects a trait primarily seen only in males, a single allele is shown as representing the individual's genotype. However, baldness may also occur in females, presumably only in females homozygous for rs6152(G;G) and also harboring the (as yet unknown) additional variations required for baldness.www.snpedia.com/index.php/Rs6152www.nature.com/ng/journal/v40/n11/full/ng.255.htm

rs1799971(A;G)The rs1799971(G) allele in exon 1 of the mu opioid receptor OPRM1 gene causes the normal amino acid at residue 40, asparagine (Asn), to be replaced by aspartic acid (Asp). Carriers of at least one rs1799971(G) allele appear to have stronger cravings for alcohol than carriers of two rs1799971(A) alleles, and are thus hypothesized to be more at higher risk for alcoholism.www.snpedia.com/index.php/Rs1799971&nbsp;

rs1799945(C;G)Hämochromatose (HH, erhöhte Aufnahme von Eisen, eine der häufigsten genetischen Erkrankungen): rs1799945(C;G). One copy of H63D, carrier of hemochromatosis, is likely unaffected unless also C282Y carrier rs1799945, also known as H63D or His63Asp, represents a SNP that accounts for a mild form of hereditary hemochromatosis (HH), an iron overload condition in which mutations of certain genes involved in iron metabolism disrupt the body’s ability to regulate uptake of iron, causing increased intestinal iron absorption. The most common form is caused by mutations in the HFE gene, which are inherited recessively. In 1996, HFE, a gene for HH, was found to have two missense mutations. A mutation at amino acid 282 (C282Y) was found to be homozygous in 83 percent of patients with HH. This is a point mutation from guanine to adenine, resulting in a missense mutation from cysteine to tyrosine. Such mutations are commonly found in people with European ancestry. Among individuals of northern European descent, hereditary hemochromatosis is the most common inherited genetic disorder. Importantly, penetrance differs between different populations. Carriers are likely unaffected unless they are also C282Y carriers. Roughly one in 200 individuals with European ancestry has two copies of C282Y and roughly one in 10 carries one copy of this mutation. Although more than 70% of people with two copies of C282Y will exhibit evidence of iron overload in blood tests, only a small percentage of people with this genotype will actually develop clinical symptoms such as liver disease and arthritis.

A Historical Perspective on Hemochromatosis

The relatively high frequency of the C282Y mutation in people with European ancestry has prompted scientists to speculate that despite the dangers of high iron levels, there was at some point in the evolutionary past an advantage to having this genetic change. Several theories have been proposed. One is that variation in the HFE gene arose as people began farming and increased their consumption of cereal grains, which are lower in iron content than the red meat that predominated in stone age diets. Another theory is that increased iron levels were advantageous because they protected women against iron deficiency brought on by menstruation and childbirth. Another theory takes into account the fact that HH actually leads to a reduction of iron levels in macrophages, which may have given people an advantage in the past by making them resistant to certain infections. None of these theories has been proven. Carriers of one copy of H63D are likely unaffected unless they are also C282Y carrier.

rs9272346(A;A) In 2007 rs9272346 has been reported to be associated with type-1 diabetes in a "Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls" The risk allele is (A); the risk associated with the homozygous (AA) genotype was 18.5 fold higher than in controls. The P value was extremely significant at 5.47 × 10-134, considering the threshold for genome-wide significance. The homozygous (AA) genotype is found in approximately 1/3rd of all people, nevertheless this variation appears to significantly increase risk of Type-1 diabetes. The genotype changes your lifetime risk for Typ-1-Diabetes from very small (0.04%) to still very small 0.75%,. www.snpedia.com/index.php/Rs9272346

Eventuell leicht verringertes Risiko für Herzinfarkt

rs3732379(C;T)rs3732379(C>T), rs3732378(G>A) represent variants in the CX3CR1 gene on chromosome 3. Both variants are typically co-inherited as a haplotype. The protein receptor with both variant amino acids is known as CX3CR1-M280.The minor alleles of the SNP pair are associated with:slightly reduced risk of acute coronary events increased risk of age related macular degeneration reduced anti-fungal immune response in Crohn's disease patients, at least for minor allele homozygotes www.snpedia.com/index.php/Rs3732378www.ncbi.nlm.nih.gov/clinvar/variation/8152/

Leicht erhöhtes Risiko für Brustkrebs

rs2981582(C;T) rs2981582(C>T) located in the FGFR2 gene was one of the four strongest associations found in a genome-wide association study (GWAS) of over 4,000 breast cancer samples. The T allele was more strongly related to ER-positive than ER-negative disease (p for heterogeneity = 10(-13)). While on its own still of fairly small effect, this SNP was the most significant of 7 SNPs to help estimate risk of breast cancer. The results are disputed and could not be confirmed in all studies. While a study of 1,225 Caucasian breast cancer patients found a significant association with rs2981582 but only in women with estrogen receptor positive (ER+), progesterone receptor positive (PR+) and HER2/Neu negative (HER2-) tumors, another study of 1,173 Caucasian ovarian cancer patients did not find strong support for an association. Clearly, family history and/or BRCA1 or BRCA2 testing status are more significant factors. www.snpedia.com/index.php/Rs2981582

rs2494732(C;C) rs2494732(C>T) is a SNP in the AKT1 gene, encoding one of three serine/threonine-protein kinases regulating numerous processes such as cell survival, growth and angiogenesis. Medical conditions that may be linked to the rarer (minor) rs2494732(C) allele include drug response, schizophrenia, and drug-related psychoses, in particular, cannabis-related psychosis.A study of 442 healthy, once-a-month cannabis users between the ages of 16-23 evaluated if AKT1 variants influenced acute psychosis response. They concluded that the rs2494732(C) allele predicted (p = 0.015) acute (i.e. temporary) psychotic response to cannabis. Homozygotes were more likely to have mind-altering symptoms while stoned. This side-effect (psychosis or paranoia) was infrequent in an absolute sense regardless of genotype. A case-control study of 489 first-episode psychosis patients concluded that rs2494732 was not associated with an increased risk of a psychotic disorder. However, with lifetime cannabis use, or with frequent use, there was a significant association between psychosis and cannabis use. rs2494732(C;C) individuals with a history of cannabis use had an increased likelihood of a psychotic disorder (odds ratio 2.18, CI: 1.1 - 4.3) when compared with users who were (T;T) carriers.www.snpedia.com/index.php/Rs2494732www.ncbi.nlm.nih.gov/pubmed/22831980

Wahrnehmung von bitterem Geschmack

rs10246939(T;C), rs1726866(T;C), rs713598(G;C) - Gs227The 3 SNPs are located in the gene TAS2R38. You are heterozygous at all 3 of the SNPs which are known to influence the ability to taste bitterness. This means you are better than average at detecting bitter tastes while young, but that this ability will decrease to less than average during adulthood. As a child you will probably hate brussel sprouts, and by early adulthood will discover that olives and brussel sprouts now taste good. In 2010, a study showed that the change of bitter sensitivity over the lifespan (from bitter sensitive to less so) is more common in people with this genoset.www.snpedia.com/index.php/Gs227

Charaktereigenschaften

rs4680(A;A)rs4680(G>A) is a well studied SNP in the COMT gene. The COMT gene codes for the COMT enzyme, which breaks down dopamine in the brain's prefrontal cortex. The wild-type allele is a (G), coding for a valine amino acid; the (A) substitution polymorphism changes the amino acid to a methionine. This alters the structure of the resultant enzyme such that its activity is only 25% of the wild type. As a result, A allele carriers have more dopamine in their prefrontal cortex, which may be responsible for many of the neuropsychological associations listed below.

rs53576(G;G) Optimistic and empathetic; handle stress wellrs53576(A>G). Studies have demonstrated that individuals with the G allele are more empathetic, feel less lonely, employ more sensitive parenting techniques, and have lower rates of autism.www.snpedia.com/index.php/Rs53576

rs7221412(G;G) Late riser. Wakes up 1 hour later than those with AA genotype. rs7221412(A>G) is a common polymorphism near PER1 and the timing of human behavioral rhythms. Studies showed that the SNP influences wake-up times. GG homozygotes wake up 1 hour later than those with AA genotype.

rs61754966 is a variant in the NBN gene (NBN:uc003yei.1:exon6:c.265A>G:p.(Ile89Val)) which has been found associated with Hereditary cancer-predisposing syndrome (uncertain significance). In a recent publication germline whole exomes from 139 aggressive (metastatic, age of diagnosis < 60) and 141 non-aggressive (low clinical grade, age of diagnosis ≥60) prostate cancer cases have been sequenced. It was found that protein truncating variants (PTVs) in specific DNA repair genes were significantly overrepresented among patients with the aggressive phenotype. BRCA2, ATM and NBN were the most frequently mutated genes (Br J Cancer. 2018 Jun 19. Epub ahead of print). In another publication MRE11A, RAD50, and NBN have been shown to represent intermediate-risk breast cancer susceptibility genes (Breast Cancer Res. 2014 Jun 3;16(3):R58).Acute lymphoblastic leukemia (potential risk factor?) An investigation of seven SNPs in NBN and XRCC3 in 460 paediatric ALL cases and 552 healthy controls did not find association of the tagged SNPs with the ALL risk and did not confirm the hypothesis that analysed DNA recombination repair variants account for increased susceptibility to ALL (Cancer Epidemiol. 2014 Oct;38(5):563-8).Aplastic anemia (pathogenic?) www.ncbi.nlm.nih.gov/clinvar/variation/6946/

rs45487699(C;T) Variante führt möglicherweise zu einer genetisch bedingten Veränderung des Herzmuskelsrs45487699, also known as c.566C>T and p.Ser189Leu, is a rare mutation in the LDB3 gene on chromosome 10. It is inherited in an autosomal dominant form, and may lead to left ventricular noncompaction, Familial hypertrophic cardiomyopathy, and Dilated cardiomyopathy 1C (conflicting interpretations of pathogenicity).www.ncbi.nlm.nih.gov/clinvar/variation/4731/ www.omim.org/entry/605906#0005

rs5186(C;C)rs5186 is located in the 3' untranslated region of the angiotensin II receptor type 1 gene AGTR1, which is also known as AT2R1 or AT1R. It is among the most studied of over 50 SNPs in AGTR1. The rs5186(C) allele is associated with increased risk for essential hypertension in Caucasian populations. Likely, there are ethnic differences in risk; while the rs5186(C) allele was associated with hypertension in a Chinese population, it was not observed as risk factor in a Japanese population. rs5186 does not appear to modify risk for developing coronary heart disease (CHD). A literature-based meta-analysis of studies published before June 2008 and totaling over 20,000 CHD cases concluded that there were no significant associations within the now larger sample-size and high-quality studies.www.snpedia.com/index.php/rs5186

rs1061235(A;T)rs1061235(T) serves as a proxy for the HLA-A*3101 allele.The HLA-A*3101 allele, found in about 2 - 5% of Northern Europeans, is significantly associated with carbamazepine hypersensitivity syndrome, with odds ratios above 10. The presence of this HLA allele increases the risk from 5% to 26%, whereas its absence reduces the risk from 5% to 4%. www.snpedia.com/index.php/rs1061235

Erhöhtes Risiko für männliche Glatzenbildung

rs2180439(T;T) -> 2-fold increased risk of Male Pattern Baldness. The SNP was detected when comparing 296 individuals with male-pattern baldness and 347 controls. The SNP is located on chromosome 20p11. The exact role of the 20p11 locus has yet to be identified.http://www.nature.com/ng/journal/v40/n11/full/ng.228.html

Verringertes Risiko für Herzinfarkt

Gs296You have a lower heart attack risk than average. You are among the ~30 % of people (depending on the population studied) who carry two minor alleles of two SNPs, rs1108580(A>G) and rs1611115(C>T) in the DBH gene. The DBH gene codes for the enzyme dopamine beta (β)-hydroxylase. This enzyme converts dopamine to norepinephrine, both of which are chemical messengers (neurotransmitters) that transmit signals between nerve cells. Norepinephrine plays an important role in the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. Carriers of the Gs296 genoset are reported as having 0.59x the risk of a heart attack or cardiovascular incident compared to people who carry neither of the minor alleles for these two SNPs, based on a study of 3,000 African-Americans enrolled in the Jackson Heart Study.www.snpedia.com/index.php/Gs296

rs5888(C;T) and rs1061170(C;T)rs5888 is a SNP in the scavenger receptor class B, member 1 SCARB1 gene. In a case-control study of two 2,498 Caucasian patients, rs5888(C;T) heterozygotes had an increased odds ratio of 2.9 (CI: 1.6-5.3, p<0.002) for age-related macular degeneration (ARMD) based on a pooled analysis.rs1061170 is a SNP in the complement factor H CFH gene; it is also known as Tyr402His or p.Y402H. The rs1061170(T) allele encodes the more common Tyr (Y), while the rarer rs1061170(C) encodes the His (H). The heterozygous genotype has been associated with a 2.5-fold risk for AMD (age related macular degeneration)www.snpedia.com/index.php/Rs5888www.snpedia.com/index.php/Rs10490924www.snpedia.com/index.php/Rs1061170

rs34882957(A>G) is located in the complement C9 gene. The minor allele has been associated with age related macular degeneration. Recently, it has been shown that C9 variants affect the secretion and polymerization of C9 (Hum Mol Genet. 2018 May 14.)www.ncbi.nlm.nih.gov/clinvar/variation/92120/

rs601338(A;A)rs601338 is found on chromosome 19 in the alpha(1,2)-fucosyltransferase FUT2 gene. The wild-type rs601338(G) encodes the "secretor" (Se) allele, while rs601338(A) encodes the "non-secretor" (se) allele. A study of 115 Swedish adults concluded that rs601338(A;A) homozygotes have genetic immunity to infection by the Norwalk norovirus, a major (and contagious) cause of acute gastroenteritis. Being a non-secretor may have other consequences, such as greater susceptibility to infection by influenza viruses and by some types of bacteria.www.snpedia.com/index.php/Rs601338

Erhöhtes Risiko für Typ-1 und/oder Typ-2 Diabetes

rs7754840(C;C) The polymorphism is located in CDKAL1, its association with diabetes is still controversial. The protein encoded by this gene is a member of the methylthiotransferase family. Previously, a 1.3-fold increased risk for type-2 diabetes had been reported.www.snpedia.com/index.php/rs7754840

rs9272346 (A;A) rs9272346 is located in the HLA-DQA1 gene, which codes for the alpha 1 subunit of the HLA-DQ MHC cell surface receptor, which is important for organ donation and immune diseases. The polymorphism has been reported to be associated with type-1 diabetes. The risk allele is (A); the odds ratio for homozygotes (AA) is 18.52. The P value is extremely significant at 5.47 × 10-134, considering the threshold for genome-wide significance. snpedia.com/index.php/Rs9272346

rs560887(G;G) The polymorphism is located in the G6PC2 gene. It was reported to be associated with fasting plasma glucose (FPG) (beta = -0.06 mmol/l per A-allele, combined p = 4 x 10(-23)) and with pancreatic beta-cell function (Homa-B model, combined p = 3 x 10(-13)) in three populations; however it was not associated with type 2 diabetes risk. Homozygous GG carriers have fasting Plasma Glucose 5.18 mmol/L (93 mg/dl), which is slightly higher than of heterozygous GA carriers.www.snpedia.com/index.php/Rs560887

rs7903146(C;T)The polymorphism is located in the TCF7L2 gene. TCF7L2 regulates late events in insulin secretion from pancreatic islet beta-cells. Heterozygotes have been reported to have a 1.4x increased risk for diabetes Type 2 and Gestational Diabetes.

rs1799945(C;G) -> Hämochromatose (HH, erhöhte Aufnahme von Eisen, eine der häufigsten genetischen Erkrankungen):The most common form of hemochromatosis is caused by mutations in the HFE gene, which are inherited recessively. In 1996, HFE, a gene for HH, was found to have two missense mutations. rs1799945, also known as H63D or His63Asp, represents a SNP that accounts for a mild form of hereditary hemochromatosis (HH), an iron overload condition in which mutations of certain genes involved in iron metabolism disrupt the body’s ability to regulate uptake of iron, causing increased intestinal iron absorption. Individuals, carrying one mutated copy are likely unaffected unless also C282Y carrier. The second known mutation at amino acid 282 (C282Y) was found to be homozygous in 83 percent of patients with HH. This is a point mutation from guanine to adenine, resulting in a missense mutation from cysteine to tyrosine which is commonly found in people with European ancestry. Among individuals of northern European descent, hereditary hemochromatosis is the most common inherited genetic disorder.

A Historical Perspective on Hemochromatosis

The relatively high frequency of the C282Y mutation in people with European ancestry has prompted scientists to speculate that despite the dangers of high iron levels, there was at some point in the evolutionary past an advantage to having this genetic change. Several theories have been proposed. One is that variations in the HFE gene arose as people began farming and increased their consumption of cereal grains, which are lower in iron content than the red meat that predominated in stone age diets. Another theory is that increased iron levels were advantageous because they protected women against iron deficiency brought on by menstruation and childbirth. Another theory takes into account the fact that HH actually leads to a reduction of iron levels in macrophages, which may have given people an advantage in the past by making them resistant to certain infections. None of these theories has been proven.

Ficolin 3 Defizienz (eine sehr seltene Erkrankung des Immunsystems):FCN3:uc001boa.3:exon5:c.349del:p.(Leu117Serfs*65) Carrier status for a rare immune defect. Individuals with ficolin-3 deficiency have highly variable manifestations and a variable age of symptom onset. Some patients may show increased susceptibility to infection in the perinatal or neonatal period, whereas others may show autoimmune features as adults. Ficolin-3, also known as H-ficolin, can activate the lectin pathway of the complement system; deficiency may thus lead to defects in the complement system. In a man with immunodeficiency and recurrent infections associated with ficolin-3 deficiency, Munthe-Fog et al. (2009) identified homozygosity for a 1-bp deletion (1637delC; 604973.0001) in exon 5 of the FCN3 gene. The patient was born of two parents, each of whom was heterozygous for the variantand unaffected. The allele frequency of the variant was 0.01 among a total of 1,282 patients with various immunodeficiencies; all were heterozygous for the variant except the index patient. The transmission pattern of complete FCN3 deficiency is consistent with autosomal recessive inheritance.www.omim.org/entry/613860 www.nejm.org/doi/full/10.1056/NEJMoa0900381

rs1333049(C;C) rs1333049 is located on chromosome 9. It has been reported in a large study to be associated with heart disease, in particular, coronary artery disease. The risk allele (oriented to the dbSNP entry) is most likely (C); the odds ratio associated with heterozygotes is 1.47 (CI 1.27-1.70), and for homozygotes, 1.9 (CI 1.61-2.24). This SNP has also been reported to have the highest association of any SNP studied in a subsequent experiment conducted with the resources of the German MI [Myocardial Infarction] Family Study. The initial studies were conducted on Caucasian populations. A subsequent study of Japanese and Korean patients has also found rs1333049 to be associated with increased coronary artery disease risk, with roughly similar odds ratios. Homozygous carriers of the CC genotype have an approx. 1.9x increased risk for CAD. www.snpedia.com/index.php/Rs1333049

rs10757278(G;G)rs10757278 is one of several SNPs clustered together in a region of chromosome 9 that has been linked to increased risk for heart disease and potentially diabetes. The overall estimate of heart disease cases that may involve this SNP (or related ones nearby) is said to be 20-30%. The risk allele is (G), which shows an increased association for myocardial infarctions ("MI"; heart attacks) both in general and more specifically in so-called early onset MI. The odds ratio for rs10757278(G;G) carriers relative to rs10757278(A:A) "noncarrier" individuals is 1.64 for Heart Attack 1.3x risk for Abdominal Aortic Aneurysm and Brain Aneurysm. Two copies of an SNP that increases risk of Myocardial Infarction (Heart Attack) and other Coronary Heart Disease. It has been shown that regularly eating raw vegetables and fruit can reduce the risk to the same level as people without any copies of this SNP. This SNP also increases risk of abdominal aortic aneurysm (weakened artery to the abdomen and legs), and brain aneurysm (weakened artery to the brain). Two other SNPs in this region with similar reports are rs10757274 and rs2383206.www.snpedia.com/index.php/rs10757278

rs279858(G;G)This SNP is located in the GABRA2 gene and has been linked to Alcoholism. The effect of this SNP, a synonymous change at amino acid residue 132, is unknown, but it does not change the GABRA2 protein sequence. Carriers of at least one rs279858(G) allele respond slower to the effects of alcohol and are thereby apparently more prone to alcoholism than carriers of two rs279858(A) alleles. Finasteride, an FDA approved drug for the treatment of benign prostatic hypertrophy and a modulator of GABRA2, was shown to have more of a blocking effect on rs279858(A) homozygotes. www.snpedia.com/index.php/Rs279858

rs6625163(A;A), rs1160312(A;G), rs6625163(A>G), rs1160312(A>G) Both SNPs are located within the genoset gs122. gs122 is associated with a 7x risk of baldness among men. Baldness is genetically associated with the haplotype gs122 at least in the Caucasian population. For rs1160312 the risk allele is assumed to be (A), for rs6625163 it is also A. The ability of gs122 to rule out going bald is reportedly high (in other words, if you are not positive for gs122, odds are good you will not go bald), but it is lacking in specificity.www.nature.com/ng/journal/v40/n11/full/ng.255.htmlwww.snpedia.com/index.php/Gs122

rs10490924(G;T) rs10490924(G>T) -> also known as c.205G>T, p.Ala69Ser and A69S, was identified as a risk factor from chromosome 10 related to age related macular degeneration. The risk allele is (T). The risk for heterozygotes is 2.69 increased. www.snpedia.com/index.php/Rs10490924

Erhöhtes Risiko für Hörverlust im Alter

rs1799930(A;A) Der SNP wurde mit einem 15.2x Risiko eines Hörverlusts im Alter assoziiert. This applies to the European and Turkish, but not Finnish populations. rs1799930 is a SNP in the NAT2 gene, potentially encoding a variant detoxifying protein known as an N-acetyltransferaseThe risk allele for this SNP is rs1799930(A), and homozygotes have been shown to have an 2.8-fold increased risk. www.snpedia.com/index.php/Rs1799930

Optimistic and empathetic; handle stress well

rs53576(G;G)rs53576(A>G). Studies have demonstrated that individuals with the G allele are more empathetic, feel less lonely, employ more sensitive parenting techniques, and have lower rates of autism.www.snpedia.com/index.php/Rs53576

Erhöhtes Risiko für Typ-1 und/oder Typ-2 Diabetes

rs9272346 (A;A) rs9272346 is located in the HLA-DQA1 gene, which codes for the alpha 1 subunit of the HLA-DQ MHC cell surface receptor, which is important for organ donation and immune diseases. The polymorphism has been reported to be associated with type-1 diabetes. The risk allele is (A); the odds ratio for homozygotes (AA) is 18.52. The P value is extremely significant at 5.47 × 10-134, considering the threshold for genome-wide significance. Although this SNP is found in approximately 1/3rd of all people, this variation appears to significantly increase risk of Type-1 diabetes. This increase of the relative risk changes the lifetime risk from a very small 0.04% to a still very small 0.75% chance. Note that the (A) allele is the most common in various human populations; instead of labeling (A) as a risk allele, we could consider the (G) allele protective.snpedia.com/index.php/Rs9272346

rs45562031 -> SLC4A1:uc002igf.4:exon4:c.118G>A:p.(Glu40Lys)0004 SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 MONTEFIORESLC4A1, GLU40LYS [dbSNP:rs45562031] [ClinVar]Spherocytosis is the presence in the blood of spherocytes, i.e erythrocytes (red blood cells) that are sphere-shaped rather than bi-concave disk shaped as normal. Hereditary spherocytosis and autoimmune hemolytic anemia are characterized by having only spherocytes. Spherocytosis is associated with a deficiency of erythrocyte band 3 protein. Spherocytosis type 4 (SPH4) is caused by heterozygous mutation in the band 3 gene (SLC4A1, EPB3; 109270) on chromosome 17q21. A study of 42 members from 4 generations of a family revealed a consistent linkage of spherocytosis with 1 particular haplotype generated by the 4 probes that were used. Rybicki et al. (1993) found a glu40-to-lys mutation in the cytoplasmic domain of the EPB3 gene. The mutation was homozygous; the proposita was the offspring of first-cousin parents born in the Dominican Republic, largely of Spanish origin with some black admixture. A striking feature was decreased RBC membrane content of protein 4.2 (177070) which was thought to be a secondary phenomenon resulting from defective interactions with band 3.en.wikipedia.org/wiki/Hereditary_spherocytosis

rs77775126 -> RP1:uc003xsd.1:exon4:c.1118C>T:p.(Thr373Ile).0006 RETINITIS PIGMENTOSA 1RP1, THR373ILE [dbSNP:rs77775126] [ClinVar]The identified mutation in the RP1 gene can lead to the disease in case of homozygosity. The inheritance is autosomal recessive. Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration affecting 1 in 3,000 to 5,000 people. Symptoms include night blindness, the development of tunnel vision, and slowly progressive decreased central vision starting at approximately 20 years of age. Upon examination, patients have decreased visual acuity, constricted visual fields, dyschromatopsia, and the classic fundus appearance with dark pigmentary clumps in the midperiphery and perivenous areas ('bone spicules'), attenuated retinal vessels, cystoid macular edema, fine pigmented vitreous cells, and waxy optic disc pallor. Fifty percent of female carriers of X-linked RP have a golden reflex in the posterior pole. In affected members of 2 consanguineous Pakistani families with retinitis pigmentosa, Khaliq et al. (2005) identified homozygosity for a 1118C-T transition in exon 4 of the RP1 gene, resulting in a thr373-to-ile (T373I) substitution predicted to abolish the glycogen synthase phosphorylation recognition site and to cause a conformational change in the protein. The parents and sibs of the patients who were heterozygous for the mutation had normal vision with no signs of RP on examination. www.omim.org/entry/180100

MC2R:uc002ksp.1:exon2:c.808G>A:p.(Val270Ile)Glucocorticoid deficiency, due to ACTH unresponsivenessGlucocorticoid deficiency-1 (GCCD1), or familial glucocorticoid deficiency (FGD1), is caused by a homozygous or compound heterozygous mutations in the gene encoding the melanocortin-2 receptor (MC2R), which is also referred to as adrenocorticotropin receptor (ACTHR), on chromosome 18p11. Familial glucocorticoid deficiency is a condition that occurs when the adrenal glands, which are hormone-producing glands located on top of each kidney, do not produce certain hormones called glucocorticoids. These hormones, which include cortisol and corticosterone, aid in immune system function, play a role in maintaining normal blood sugar levels, help trigger nerve cell signaling in the brain, and serve many other purposes in the body. The inheritance is autosomal recessive.ghr.nlm.nih.gov/condition/familial-glucocorticoid-deficiency

rs11214077 -> SDHD:uc001pmz.4:exon2:c.149A>G:p.(His50Arg) wurde z.B. “classified as benign in ClinVar.”, The variant is located in the gene for succinate-ubiquinone oxidoreductase, coding for an important enzyme complex in both the tricarboxylic acid cycle and the aerobic respiratory chains of mitochondria in eukaryotic cells and prokaryotic organisms. Several studies identified mutations in the gene in paraganglioma.Paragangliomas 1, with or without deafness (AD)Pheochromocytoma (AD)www.ncbi.nlm.nih.gov/clinvar/variation/6909/

rs2066847(-;C) rs2066847 is one of several SNPs referring to a one base insertion into a run of C's within exon 11 of the NOD2 gene. The initial reports linked this insertion variant with an increased risk for Crohn's disease/ Inflammatory bowel disease. In heterozygotes, the risk is 3x higher. Carriers of any NOD2 variant SNP do not respond well to treatment of perianal fistulating Crohn's disease by the antibiotics ciprofloxacin or metronidazole, whereas carriers of wild-type NOD2 genes have at least some chance (1 in 3) of responding well.www.snpedia.com/index.php/Rs2066847

rs1061170(C;T)rs1061170 is a SNP in the complement factor H CFH gene; it is also known as Tyr402His or p.Y402H. The rs1061170(T) allele encodes the more common Tyr (Y), while the generally rarer rs1061170(C) encodes the His (H). This SNP has been associated with age related macular degeneration (AMD). Heterozygotes have an approx.. 2.5x risk for AMD. Unter dem Begriff Makuladegeneration wird eine Gruppe von Erkrankungen der Netzhaut des Auges zusammengefasst, die die Macula lutea („Gelber Fleck“) betreffen.www.snpedia.com/index.php/Rs1061170

Erhöhte Schlafdauer

rs11046205(A;A) rs11046205 is located in the ABCC9 gene. This gene controls postural changes in blood pressure. Associations with postural changes in blood pressure found: Furthermore, a K(ATP) channel gene effect on sleep duration was described. The A allele was associated with longer sleep duration, while the G allele was associated with shorter sleep duration. rs11046205 explains ~5% of the variation in sleep duration.www.snpedia.com/index.php/Rs11046205www.ncbi.nlm.nih.gov/pubmed/22105623?dopt=Abstract

Leicht erhöhte Stimulation durch Kaffee

gs157You appear to have a common genotype in the gene CYP1A2 which metabolizescoffee more slowly. The same amount of caffeine will tend to have more stimulating effect on slow metabolizers than on fast metabolizers. Ciprofloxacin is also metabolized by CYP1A2, but is unclear if your genotype should influence its effect. You seem more stimulated by coffee.www.snpedia.com/index.php/Gs157

rs2231142, also known as Q141K and C421A, is a SNP in the ABCG2 gene. Genome-wide association and functional studies have shown that the ABCG2 gene encodes for a urate transporter. The common ABCG2 variant, rs2231142, leads to elevated uric acid levels and a 1.7-fold higher gout risk. It was shown that at least 10% of all gout cases in whites are attributable to this variant.www.snpedia.com/index.php/Rs2231142

Leicht erhöhtes Risiko für rheumatoide Arthritis

rs6457617(T;T)rs6457617 is a SNP on chromosome 6 in the MHC region which has been reported in a large study to be associated with rheumatoid arthritis. This SNP is the most statistically significant of many SNPs similarly located in the MHC region. The risk allele (oriented to the dbSNP entry) is (T); homozygotes have a 5.2x increased risk of rheumatoid arthritis.www.snpedia.com/index.php/Rs6457617

rs1815739(C;C)This SNP is located in the ACTN3 gene and encodes a premature stop codon in a muscle protein called alpha-actinin-3. The polymorphism alters position 577 of the alpha-actinin-3 protein. This genotype indicates better performing muscles, particularly for sprinting and power sports. A study performed in 2016 failed to replicate the data which casts doubt. www.snpedia.com/index.php/Rs1815739

rs2070744(T;T) rs2070744 is a SNP in the promoter region of the NOS3 gene which encodes nitric oxide synthase 3, and is also known as eNOS; the SNP is associated with higher levels of the corresponding mRNA (and possibly protein). T represents the normal allele. Associations for the risk allele (C) of this SNP include cardiovascular differences. There may be negative health consequences with increased risk of cardiovascular disorders. The C-allele is found in high frequency male athletes from power sports such as jumpers, throwers, and sprinters. Men who carry the C allele responded more favorably to antihypertensive effects of aerobic exercisewww.snpedia.com/index.php/Rs2070744(T;T)

CLPB:uc001osi.3:exon3:c.46A>G:p.(Arg16Gly) Caseinolytic peptidase B protein homolog(CLPB) is an enzyme that in humans is encoded by the CLPBgene. CLPB is localized in mitochondria and widely expressed in human tissues. High expression in adult brain and low expression in granulocyte is found. It is involved in disaggregating proteins and also has a role in de novoprotein synthesis under mild stress conditions. Mutations in "CLPB" gene could cause autosomal recessive metabolic disorder with intellectual disability/developmental delay, congenital neutropenia, progressive brain atrophy, movement disorder, cataracts, and 3-methylglutaconic aciduria. CLPB deficiency can increase the risk of infections; and clouding of the lenses of the eyes (cataracts). The severity of these features varies widely. Many of the CLPB gene mutations lead to an abnormally short CLPB protein that is likely broken down quickly. Other mutations may reduce CLPB's function. The severity of the condition is thought to be related to the amount of functional protein remaining: severe CLPB deficiency is likely caused by a complete absence of CLPB protein, while moderate and mild CLPB deficiency result when some functional CLPB protein is produced. www.ncbi.nlm.nih.gov/clinvar/variation/187785/www.omim.org/entry/616254

MYBPC3:uc021qir.1:exon23:c.1468G>C:p.(Ala490Pro). Potential genetic cause of cardiomyopathy, but inconclusive evidence. In the 20 years since the discovery of the first mutation linked to familial hypertrophic cardiomyopathy (HCM), an astonishing number of mutations affecting numerous sarcomeric proteins have been described. Among the most prevalent of these are mutations that affect thick filament binding proteins, including the myosin essential and regulatory light chains and cardiac myosin binding protein (cMyBP)-C. However, despite the frequency with which myosin binding proteins, especially cMyBP-C, have been linked to inherited cardiomyopathies, the functional consequences of mutations in these proteins and the mechanisms by which they cause disease are still only partly understood (SP Harris et al. Circulation research. 2011;108(6):751-764.)www.ncbi.nlm.nih.gov/clinvar/variation/179456/www.omim.org/entry/600958

rs2241880(C;C) This SNP in the ATG16L1 gene encoding a threonine to alanine substitution ("T300A") in a protein known to be involved in the function of the epithelial cells lining the intestine, has been associated with Crohn's disease in several recent studies. Homozygous individuals have a 2x-3x increased risk for Crohn's disease in Caucasians.www.snpedia.com/index.php/Rs2241880www.ncbi.nlm.nih.gov/clinvar/variation/1130/

Leicht erhöhtes Risiko für Altersblindheit

rs3732379(C;T) rs3732379 is a polymorphism in the chemokine receptor CX3CR1 which has been associated with the risk of Macular Degeneration in a prospective study of variants in CX3CR1. An association between the CX3CR1 gene V249I polymorphism and delayed kidney allograft function has also been reported.www.ncbi.nlm.nih.gov/clinvar/variation/8152/

rs5848(A;A) rs5848is located in the FAM171A2 gene. The homozygous A-genotype has been associated with a 2-3 fold increased risk for dementia. Detailed haplotype analysis was conducted, indicating rs5848 as most likely causal variant. Association between rs5848(A;A) and frontotemporal dementia is now generally assumed in literature, despite some studies failing to reproduce it.

rs33978901(C;T) rs33978901, also known as c.2771G>A, p.Arg924Gln and R924Q, is a SNP in the VWF gene on chromosome 12. The rarer rs33978901(T) allele leads to reductions in VWF and FVIII levels particularly in combination with blood group O. Its inheritance alone may be insufficient for the diagnosis of Von Willebrand disease, but it does appear to be associated with a further VWF level reduction in the presence of a second VWF mutation. It also contributes to population variance in VWF and FVIII levels according to a 2010 publication. http://www.snpedia.com/index.php/Rs33978901

Erhöhtes Risiko für männliche Glatzenbildung

rs2180439(T;T)The SNP was detected when comparing 296 individuals with male-pattern baldness and 347 controls. The SNP is located on chromosome 20p11. The exact role of the 20p11 locus has yet to be identified.www.nature.com/ng/journal/v40/n11/full/ng.228.html

rs1799971(A;G) The rs1799971(G) allele in exon 1 of the mu opioid receptor OPRM1 gene causes the normal amino acid at residue 40, asparagine (Asn), to be replaced by aspartic acid (Asp). Carriers of at least one rs1799971(G) allele appear to have stronger cravings for alcohol than carriers of two rs1799971(A) alleles, and are thus hypothesized to be more at higher risk for alcoholism. www.snpedia.com/index.php/Rs1799971

Wahrnehmung von bitterem Geschmack

rs10246939(T;C), rs1726866(T;C), rs713598(G;C)The 3 SNPs are located in the gene TAS2R38. You are heterozygous at all 3 of the SNPs which are known to influence the ability to taste bitterness. This means you are better than average at detecting bitter tastes while young, but that this ability will decrease to less than average during adulthood. As a child you probably hated brussel sprouts, and by early adulthood will discover that olives and brussel sprouts now taste good. In 2010, a study showed that the change of bitter sensitivity over the lifespan (from bitter sensitive to less so) is more common in people with this genoset.www.snpedia.com/index.php/Rs10246939

Sonstiges

Charaktereigenschaften

rs53576(G;G)rs53576(A>G). Studies have demonstrated that individuals with the G allele are more empathetic, feel less lonely, employ more sensitive parenting techniques, and have lower rates of autismwww.snpedia.com/index.php/Rs53576

rs2070744(T;T) rs2070744 is a SNP in the promoter region of the NOS3 gene which encodes nitric oxide synthase 3, and is also known as eNOS; the SNP is associated with higher levels of the corresponding mRNA (and possibly protein). T represents the normal allele. Associations for the risk allele (C) of this SNP include cardiovascular differences. There may be negative health consequences with increased risk of cardiovascular disorders. The C-allele is found in high frequency male athletes from power sports such as jumpers, throwers, and sprinters. Men who carry the C allele responded more favorably to antihypertensive effects of aerobic exercisewww.snpedia.com/index.php/Rs2070744(T;T)

rs28730837 -> MPO:uc002ivu.1:exon7:c.995C>T:p.(Ala332Val)rs28730837 is located in the MPO gene. Myeloperoxidase deficiency is an autosomal recessive genetic disorder featuring deficiency, either in quantity or of function, of myeloperoxidase, an enzyme found in certain phagocytic immune cells, especially polymorphonuclear leukocytes. Although MPO deficiency classically presents with immune deficiency (especially candida albicans infections), the majority of individuals with MPO deficiency show no signs of immunodeficiency. The lack of severe symptoms suggests that role of myeloperoxidase in the immune response must be redundant to other mechanisms of intracellular killing of phagocytosed bacteria.www.snpedia.com/index.php/Rs28730837www.omim.org/entry/606989?search=rs28730837&highlight=rs28730837www.ncbi.nlm.nih.gov/clinvar/variation/3630/

Although variants in the MYO1A gene were reported (in 2003) to cause deafness, more recent research (published in 2014 and 2016) concludes that at least so far, all known MYO1A variants do not lead to deafness - they are actually benign.

rs1801166 -> APC:uc003kpy.4:exon16:c.3949G>C:p.(Glu1317Gln)rs1801166, also known as c.3949G>C, p.Glu1317Gln and E1317Q, represents a rare variant in the APC gene on chromosome 5.There are conflicting views on whether the minor rs1801166(C) allele increases risk for familial adenomatous polyposis (FAP), a disorder often leading to colorectal cancer. One publication states the presence of this minor allele raises the risk of colon cancer 11 fold; other publications find no increase in risk.Detailed molecular genetics of the APC*E1317Q mutation in tumor tissue suggest it may not be pathologically significant. Normally, APC gene mutations associated with FAP are dominant. Therefore, the most conservative conclusion would be to say that if it's pathogenic at all, the E1317Q mutation is likely to lead to significantly increased risk primarily in rs1801166(C;C) homozygotes, but it might also be worth suggesting increased screening for heterozygotes anyway, and most especially for any E1317Q carriers with a family history of colon cancer.www.omim.org/entry/611731?search=APCwww.ncbi.nlm.nih.gov/clinvar/variation/829/

rs5888(C;T)rs5888 is a SNP in the scavenger receptor class B, member 1 SCARB1 gene. In a case-control study of 2,498 Caucasian patients, rs5888(C;T) heterozygotes had an increased odds ratio of 2.9 (CI: 1.6-5.3, p<0.002) for age-related macular degeneration (ARMD) based on a pooled analysis.www.snpedia.com/index.php/Rs5888

rs1061170(C;T)rs1061170 is a SNP in the complement factor H CFH gene; it is also known as Tyr402His or p.Y402H. The rs1061170(T) allele encodes the more common Tyr (Y), while the rarer rs1061170(C) encodes the His (H). The heterozygous genotype has been associated with a 2.5-fold risk for AMD (age related macular degeneration)www.snpedia.com/index.php/rs1061170

rs10490924(G;T)rs10490924(G>T) also known as c.205G>T, p.Ala69Ser and A69S, was identified as a risk factor from chromosome 10 related to age related macular degeneration. The risk allele is (T). The risk for heterozygotes is 2.69 increased. www.snpedia.com/index.php/Rs10490924

rs1136287(T;T)rs1136287 is a C>T single-nucleotide variation on human chromosome 17 in the SERPINF1 gene. The protein product may be altered. Homozygosity for the T-allele was associated with a 3.9x increased risk of wet ARMD in a Taiwanese Chinese population. In Caucasians it was shown that the variant plaid an important role in treatment response in AMD patients.www.snpedia.com/index.php/rs1136287

rs2511989(A;G)The SNP is located in the Complement 1 Inhibitor (C1INH/SERPING1). The heterozygous genotype has been associated with a 0.63x decreased age-related macular degeneration riskwww.snpedia.com/index.php/rs2511989 &nbsp;

Leicht erhöhtes Risiko für rheumatoide Arthritis

rs6457617(T;T)rs6457617 is a SNP on chromosome 6 in the MHC region which has been reported in a large study to be associated with rheumatoid arthritis. This SNP is reported to be the most statistically significant of many SNPs similarly located in the MHC region. The risk allele is (T); homozygotes have a 5.2x increased risk of rheumatoid arthritis. www.snpedia.com/index.php/Rs6457617

Leicht erhöhtes Risiko für Typ-1 und/oder Typ-2 Diabetes

rs9272346(A;A)rs9272346 is an A/G single-nucleotide variation on human chromosome 6 in the HLA-DQA1 gene. In 2007 rs9272346 has been reported to be associated with type-1 diabetes in a "Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls" The risk allele is (A); the risk associated with the homozygous (AA) genotype was 18.5 fold higher than in controls. The P value was extremely significant at 5.47 × 10-134, considering the threshold for genome-wide significance.The homozygous (AA) genotype is found in approximately 1/3rd of all people. Nevertheless, this variation appears to significantly increase risk of Type-1 diabetes. The genotype changes your lifetime risk for Typ-1-Diabetes from a very small (0.04%) to a still very small 0.75%, chance.snpedia.com/index.php/Rs9272346

rs7903146(C;T) The polymorphism is located in the TCF7L2 gene. TCF7L2 regulates late events in insulin secretion from pancreatic islet beta-cells. Heterozygotes have been reported to have a 1.4x increased risk for diabetes Type 2 and Gestational Diabetes.snpedia.com/index.php/Rs7903146

rs358806(C;C) rs358806 has been reported in a large study to be associated with type-2 diabetes. The risk allele is (C); the odds ratio for homozygotes is 1.78 (CI 1.34-2.36) www.snpedia.com/index.php/Rs358806

rs17782313(C;C) rs17782313is a polymorphism in the MC4R gene which codes for the melanocortin 4 receptor. Large studies showed an association between MC4R rs17782313 polymorphism and overeating behaviors. A study of 60,000 adults indicates that rs17782313(C) alleles are associated with higher body mass index (BMI), with even greater effect in children. The average increase in BMI for homozygotes is 0.44 BMI units. The rs17782313(C) allele is significantly associated with higher intake of total energy and dietary fat. In addition, the SNP was related to greater long-term weight change and increased risk of diabetes in women.www.snpedia.com/index.php/Rs17782313www.ncbi.nlm.nih.gov/pubmed/18454148www.ncbi.nlm.nih.gov/pubmed/23147118

Leicht erhöhtes Risiko für Bluthochdruck

rs5186(A;C) rs5186 is located in the 3' untranslated region of the angiotensin II receptor type 1 gene AGTR1, which is also known as AT2R1 or AT1R. It is among the most studied of over 50 SNPs in AGTR1. The rs5186(C) allele is associated with increased risk for essential hypertension in Caucasian populations with an odds ratio of about 1.4 for heterozygotes. Apparently, there are ethnic differences in risk; while the rs5186(C) allele was associated with hypertension in a Chinese population it was not been observed as a risk in a Japanese population. Age and gender may also influence risk.www.snpedia.com/index.php/Rs5186www.ncbi.nlm.nih.gov/clinvar/variation/18065/

Verringertes Risiko für Herzinfarkt

Gs296You have a lower heart attack risk than average. You are among the ~30 % of people (depending on the population studied) who carry two minor alleles of two SNPs, rs1108580(A>G) and rs1611115(C>T) in the DBH gene. The DBH gene codes for the enzyme dopamine beta (β)-hydroxylase. This enzyme converts dopamine to norepinephrine, both of which are chemical messengers (neurotransmitters) that transmit signals between nerve cells. Norepinephrine plays an important role in the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. Carriers of the Gs296 genoset are reported as having 0.59x the risk of a heart attack or cardiovascular incident compared to people who carry neither of the minor alleles for these two SNPs, based on a study of 3,000 African-Americans enrolled in the Jackson Heart Study. www.snpedia.com/index.php/Gs296

Resistenz gegen Norovirus-Infektionen

rs601338(A;A) rs601338(G>A) is located on chromosome 19 in the alpha(1,2)-fucosyltransferase FUT2 gene. The wild-type rs601338(G) encodes the "secretor" allele, while rs601338(A) encodes the "non-secretor" allele. A study of 115 Swedish adults concluded that rs601338(A;A) homozygotes have genetic immunity to infection by the Norwalk norovirus, a major (and contagious) cause of acute gastroenteritis among adults worldwide.https://www.snpedia.com/index.php/Rs601338

rs2070744(T;T) rs2070744 is a SNP in the promoter region of the NOS3 gene which encodes nitric oxide synthase 3, and is also known as eNOS; the SNP is associated with higher levels of the corresponding mRNA (and possibly protein). T represents the normal allele. Associations for the risk allele (C) of this SNP include cardiovascular differences. There may be negative health consequences with increased risk of cardiovascular disorders. The C-allele is found in high frequency male athletes from power sports such as jumpers, throwers, and sprinters. Men who carry the C allele responded more favorably to antihypertensive effects of aerobic exercisewww.snpedia.com/index.php/Rs2070744(T;T)

Charaktereigenschaften

rs4680(A;A) rs4680(G>A) is a well studied SNP in the COMT gene. The COMT gene codes for the COMT enzyme, which breaks down dopamine in the brain's prefrontal cortex. The wild-type allele is a (G), coding for a valine amino acid; the (A) substitution polymorphism changes the amino acid to a methionine. This alters the structure of the resultant enzyme such that its activity is only 25% of the wild type. As a result, A allele carriers have more dopamine in their prefrontal cortex, which may be responsible for many of the neuropsychological associations listed below. rs4680(A) = Worrier. Lower COMT enzymatic activity, therefore higher dopamine levels; lower pain threshold, enhanced vulnerability to stress, yet also more efficient at processing information under most conditions. rs4680(G) = Warrior. higher COMT enzymatic activity, therefore lower dopamine levels; higher pain threshold, better stress resiliency, albeit with a modest reduction in executive cognition performance under most conditions.www.snpedia.com/index.php/Rs4680

Optimistic and empathetic

rs53576(G;G)rs53576 is a silent G to A change in the oxytocin receptor (OXTR) gene. Studies have demonstrated that individuals with the G allele are more empathetic, feel less lonely, employ more sensitive parenting techniques, and have lower rates of autism. www.snpedia.com/index.php/Rs53576

rs4244285(A;G) rs4244285 is a SNP in the CYP2C19 gene, potentially encoding the CYP2C19*2 variant. This variant is the most common reason for poor metabolism of compounds like mephenytoin (an anti-convulsant), some antidepressants, the anti-platelet drug Plavix, and some drugs used for ulcer conditions of various types.www.snpedia.com/index.php/Rs4244285www.pharmgkb.org/rsid/rs4244285

rs1333049(C;C) Moderat erhöhtes Risiko für Herz-Kreislauf-Erkrankungen, insbesondere Herzinfarkt (20% der EuropäerInnen tragen diese Variante und haben ein vergleichbar erhöhtes Risiko): rs1333049 is located on chromosome 9. It has been reported in a large study to be associated with heart disease, in particular, coronary artery disease. The risk allele (oriented to the dbSNP entry) is most likely (C); the odds ratio associated with heterozygotes is 1.47 (CI 1.27-1.70), and for homozygotes, 1.9 (CI 1.61-2.24). This SNP has also been reported to have the highest association of any SNP studied in a subsequent experiment conducted with the resources of the German MI [Myocardial Infarction] Family Study. The initial studies were conducted on Caucasian populations. A subsequent study of Japanese and Korean patients has also found rs1333049 to be associated with increased coronary artery disease risk, with roughly similar odds ratios. Homozygous carriers of the CC genotype have an approx. 1.9x increased risk for CAD.www.snpedia.com/index.php/Rs1333049www.nature.com/nature/journal/v447/n7145/full/nature05911.htmljournals.lww.com/jcardiovascularmedicine/Abstract/2016/08000/9p21_3_risk_locus_is_associated_with_first_ever.7.aspx

rs55705857(A;G) rs55705857 is a SNP located in a relatively gene-poor area of the chromosomal region 8q24.21, near other SNPs that have been associated with certain cancers (prostate and ovarian).A study by UCSF and Mayo Clinic researchers of over 1,600 glioblastoma patients concluded that carriers of a rs55705857(G) allele are at 5 - 6 fold higher risk for developing a glioma disease subtype categorized by harboring IDH1 or IDH2 (somatic) mutations. These risk factors are among the highest ever reported for cancer-associated SNPs found in a SNP survey; nonetheless, keep in mind that glioblastomas are very rare, with on average 2 - 3 people per 100,000 diagnosed per year, even with an allele frequency for rs55705857(G) of between 2 - 8%.www.nature.com/articles/ng.2388www.snpedia.com/index.php/rs55705857

Resistenz gegen Norovirus-Infektionen

rs601338(A;A)rs601338(G>A) is located on chromosome 19 in the alpha(1,2)-fucosyltransferase FUT2 gene. The wild-type rs601338(G) encodes the "secretor" allele, while rs601338(A) encodes the "non-secretor" allele. A study of 115 Swedish adults concluded that rs601338(A;A) homozygotes have genetic immunity to infection by the Norwalk norovirus, a major (and contagious) cause of acute gastroenteritis among adults worldwide.www.snpedia.com/index.php/Rs601338

Genetisch bedingt erhöhtes Gehirn (Hippocampus) Volumen

rs7294919(C;T)rs7294919 showed a particularly strong link to a reduced hippocampus volume, suggesting that this gene is very important to hippocampus development or health. The SNP is located between two genes, HRK and FBXW8. Evidence suggests that it influences the expression level of a gene 3’ to FBXW8, TESC [3]. Each copy of the T allele was associated with a 107.8 mm3 decrease in hippocampal volume. In European populations, the effect allele (T) is found at frequency of 0.898. The minor allele (C) is found at a frequency of 0.102.The hippocampus is a critical brain structure involved in learning and memory. In particular, it is associated with the ability to form long-term memories of facts and events. This is in contrast to short-term and working memory, which have been shown to be independent of the hippocampus. Hippocampal size decreases with age and is diminished in several disorders including Alzheimer’s Disease, Major Depressive Disorder, Post-traumatic Stress Disorder, and Schizophrenia. Moreover, the size of the structure is heritable, with estimates of heritability ranging from 40-70%. Aging is associated with reductions in hippocampal volume that are accelerated by Alzheimer's disease and vascular risk factors. The rs7294919 was associated with hippocampal volume with a combined P value of 1.99 x 10-7. The authors also examined the association of the SNP with IQ. While no association was found with full-scale IQ, a small association was found between having the C (minor) allele and an increase in verbal IQ.www.snpedia.com/index.php/rs7294919www.nature.com/articles/ng.2237www.nature.com/articles/ng.2250

rs1799971(A;G)The rs1799971(G) allele in exon 1 of the mu opioid receptor OPRM1 gene causes the normal amino acid at residue 40, asparagine (Asn), to be replaced by aspartic acid (Asp). Carriers of at least one rs1799971(G) allele appear to have stronger cravings for alcohol than carriers of two rs1799971(A) alleles, and are thus hypothesized to be more at higher risk for alcoholism. www.snpedia.com/index.php/Rs1799971

Sonstiges

Optimistic and empathetic

rs53576(G;G) rs53576 is a silent G to A change in the oxytocin receptor (OXTR) gene. Studies have demonstrated that individuals with the G allele are more empathetic, feel less lonely, employ more sensitive parenting techniques, and have lower rates of autism.www.snpedia.com/index.php/Rs53576

Better performing muscles

rs1815739(C;C) This SNP, in the ACTN3 gene, encodes a premature stop codon in a muscle protein called alpha-actinin-3. The polymorphism alters position 577 of the alpha-actinin-3 protein. In publications the (C;C) genotype is often called RR. (T;T) is under-represented in elite strength athletes, consistent with previous reports indicating that alpha-actinin-3 deficiency appears to impair muscle performance.The most common nucleotide at this position, (C), encodes an arginine (amino acid code R), the alternative T allele encodes a stop codon (X). The (CC) genotype indicates better performing muscles, particularly for sprinting and power sports.www.snpedia.com/index.php/Rs1815739

Leicht erhöhte Stimulation durch Kaffee

gs159You appear to have a common genotype in the gene CYP1A2 which metabolizes coffee more slowly. The same amount of caffeine will tend to have more stimulating effect on slow metabolizers than on fast metabolizers. Ciprofloxacin is also metabolized by CYP1A2, but is unclear if your genotype should influence its effect. You seem more stimulated by coffee.www.snpedia.com/index.php/Gs159

rs144080386(C;T)rs144080386 is a polymorphism in the PADI3 gene, p.Ala294Val. Carrier of an uncombable hair syndrome variant. Uncombable hair syndrome is a rare anomaly of the hair shaft that occurs in children and improves with age. Onset is usually between ages 3 months and 12 years. Hair becomes progressively silvery-blond or straw-colored, dry and disordered, standing out from the scalp and growing in different directions, and being unmanageable to comb it flat. The quantity of hair stays normal. Microscopic analysis reveals a longitudinal groove of the hair shaft with a triangular or kidney-shaped section. The anomaly is clinically detectable when approximately 50% of hairs are affected. Several conditions have been reported to occur with UHS such as ectodermal dysplasia, retinal dysplasia, retinal pigmentary dystrophy, juvenile cataract, digit abnormalities, tooth enamel anomalies, oligodontia, phalango-epiphyseal dysplasia, alopecia areata, atopic eczema, and ichthyosis vulgaris.The stiffness and brightness of hair are supposed to result from a misshapen dermal papilla inducing an anomaly in the keratinization of the inner root sheath. Affected individuals mostly carry homozygous or compound heterozygous mutations in one of three genes (PADI3 (peptidylarginine deiminase 3), TGM3 (transglutaminase 3), and TCHH (trichohyalin)), indicating an autosomal-recessive inheritance pattern in the majority of UHS case subjects.www.omim.org/entry/606755?search=rs144080386&highlight=rs144080386www.ncbi.nlm.nih.gov/clinvar/variation/374867/de.wikipedia.org/wiki/Syndrom_der_unk%C3%A4mmbaren_Haare

rs4244285(G;A)rs4244285(G>A) is a SNP in the CYP2C19 gene, potentially encoding the CYP2C19*2 variant. This variant is the most common reason for poor metabolism of compounds like mephenytoin (an anti-convulsant), some antidepressants, the anti-platelet drug Plavix, and some drugs used for ulcer conditions of various types. In Caucasians, SNPs in CYP2C19 are relatively rare. A study of 1,477 subjects with acute coronary syndromes who were treated with clopidogrel as part of the Trial to Assess Improvement in Therapeutic Outcomes by Optimizing Platelet Inhibition with Prasugrel-Thrombolysis in Myocardial Infarction (TRITON-TIMI) 38 study concluded that rs4244285(A) allele carriers had a 1.53x increased risk for death from cardiovascular causes, myocardial infarction, or stroke, as compared with noncarriers.” www.snpedia.com/index.php/Rs4244285www.pharmgkb.org/rsid/rs4244285www.ncbi.nlm.nih.gov/clinvar/variation/16897/

rs9934438(T:T) -> Coumadin (warfarin) resistance. rs9934438(C>T) 1173C>T polymorphism in the VKORC1 gene. The T allele frequency was 38.8%. Individuals with the TT genotype who are treated with warfarin may require a lower coumadin/warfarin dose compared to patients with the TC or CC genotype. Other genetic and clinical factors may also influence a patient's required dose of warfarin. Persons with at least one T-allele had a statistically significant 19% (95% CI 2 to 40%) risk increase of calcification of the aortic wall compared to CC homozygous persons.www.snpedia.com/index.php/Rs9934438www.ncbi.nlm.nih.gov/clinvar/variation/37344/www.pharmgkb.org/rsid/rs9934438

rs1333049(G;C)rs1333049(G>C) has been reported in a large study to be associated with heart disease, in particular, coronary artery disease. The risk allele (oriented to the dbSNP entry) is most likely (C); the odds ratio associated with heterozygotes is 1.47 (CI 1.27-1.70), and for homozygotes, 1.9 (CI 1.61-2.24). This SNP has also been reported to have the highest association of any SNP studied in a subsequent experiment conducted with the resources of the German MI [Myocardial Infarction] Family Study. It has been shown that regularly eating raw vegetables and fruit can reduce the risk to the same level as people without any copies of this SNP. A subsequent study of Japanese and Korean patients has also found rs1333049 to be associated with increased coronary artery disease risk, with roughly similar odds ratios. www.snpedia.com/index.php/Rs1333049www.nature.com/articles/nature05911

rs1801282(C;G)rs1801282(C>G) is a common SNP in the peroxisome proliferator-activated receptor PPARG gene. The more common (C) allele (in dbSNP orientation) encodes the 'Pro' amino acid at this SNP position. The SNP.has been reported to be associated with metabolic syndrome, but other studies have not been able to replicate any strong or significant effect. Reportedly, the (G) allele increased the risk of isolated impaired fasting glycemia (OR=1.64) but not isolated impaired glucose tolerance. www.snpedia.com/index.php/Rs1801282

rs9272346(A;A) rs9272346 is located in the HLA-DQA1 gene locus. The SNP has been reported to be associated with type-1 diabetes. The risk allele (oriented to the dbSNP entry) is (A); the odds ratio associated with heterozygotes is 5.49 (CI 4.83-6.24), and for homozygotes (AA), the risk is 18.52 (CI 12.69-27.03). The P value is extremely significant at 5.47 × 10-134, considering the threshold for genome-wide significance. www.snpedia.com/index.php/Rs9272346

rs10830963(C;G) The SNP is located in the MTNR1B gene which codes for Melatonin receptor MT2 or 1B. It has been associated with risk for type 2 diabetes and reduced insulin secretion. A study totaling 19,000+ Europeans concluded that rs10830963 had the most influence of any MTNR1B gene SNP on the risk for type-2 diabetes. Specifically, the (G) allele increased the risk of isolated impaired fasting glycemia (OR=1.64, P=5.5x10(-11)) but not isolated impaired glucose tolerance.www.snpedia.com/index.php/Rs10830963

rs13266634(C;T)rs13266634 is a SNP in the zinc transporter protein member 8 SLC30A8 gene that has primarily been associated with type-2 diabetes in several studies. The major allele of the SLC30A8 SNP rs13266634 associated with reduced insulin secretion, but not with insulin resistance. 46% of European non-diabetic offspring of type-2 diabetes patients are rs13266634(C;C) homozygotes; they are diabetes-prone and characterised by a 19% decrease in first-phase insulin release following an intravenous glucose load.www.snpedia.com/index.php/Rs13266634

rs1421085(C;T) rs1421085 is a SNP located in the first intron of the FTO (fat mass and obesity associated) gene on chromosome 16. This SNP showed the most association with obesity. Individuals with the (CT) genotype have a 1.3-fold higher risk for obesity.www.snpedia.com/index.php/Rs1421085

rs1121980(C;T)rs1121980 is a SNP in the FTO gene, which showed strong association of several SNPs in the region with early onset obesity in a study of ~1,000 Caucasians. The T-allele was associated with a moderate increase (2.76x) in risk for obesity.www.snpedia.com/index.php/Rs1121980

rs9939609(A;T) rs9939609(T>A) is a SNP in the fat mass and obesity associated FTO gene. The increases in body mass index associated with rs9939609(A) appears to begin at a young age and are maintained throughout adulthood, according to a study of 5,600+ Utah families. www.snpedia.com/index.php/Rs9939609

Reduziertes Risiko für Brustkrebs

rs3750817(T;T)rs3750817 is a SNP in the fibroblast growth factor receptor 2 FGFR2 gene. A study of 2,166 invasive breast cancer cases concluded that carriers of a rs3750817(T) allele had lower risk for cancer, with an estimated per-minor-allele odds ratio of 0.78. Success with hormone therapy to treat postmenopausal symptoms also correlated with the number of rs3750817(T) alleles.www.snpedia.com/index.php/Rs3750817cebp.aacrjournals.org/content/18/11/3079.long

rs5888(C;T)this SNP is in the scavenger receptor class B, member 1 SCARB1 gene. In a case-control study of two Caucasian populations totaling 2,498 patients, rs5888(C;T) heterozygotes had an increased odds ratio of 2.9 (CI: 1.6-5.3, p<0.002) for age-related macular degenerationwww.snpedia.com/index.php/Rs5888

rs1061170(C;T)is a SNP in the complement factor H CFH gene. The (C;T) genotype leads to a 2.5x risk for AMD (age-related macular degeneration). More than 50% of Europeans have the (C;T) genotype.www.snpedia.com/index.php/Rs1061170

rs16969968(A;A)rs16969968 is a SNP in the CHRNA5 gene that has been associated with smoking phenotype in a study of 2,000+ individuals. Functional studies demonstrated that the risk allele decreased the response to a nicotine agonist, therefore the rs16969968(A) allele is likely to be involved in nicotine dependence. A study of 200 individuals replicated the association between this SNP and nicotine dependence, and also concluded that the rs16969968(A) allele was significantly associated with "enhanced pleasurable responses" to a person's first cigarette.www.snpedia.com/index.php/Rs16969968www.ncbi.nlm.nih.gov/clinvar/variation/17497/

rs17487223(T;T)rs17487223 is a SNP in the CHRNB4 which increases susceptibility to lung cancer 1.28 times for carriers of the T allele. The SNP is also a risk factor for Age-Dependent Nicotinewww.snpedia.com/index.php/Rs17487223

rs4986782(A;G) rs4986782 is located in the NAT1 gene. The phenotype of the most common "Slow Acetylator" Arylamine N-Acetyltransferase 1 Genetic Variant (NAT1*14B) is substrate-dependent. It has been associated with higher frequency of smoking-induced lung cancer and is the most common "slow acetylator" arylamine N-acetyltransferase 1 genetic variantwww.snpedia.com/index.php/rs4986782

rs1051730(T;T) rs1051730, also known as D398N, is a SNP in the nicotinic acetylcholine receptor alpha 3 subunit CHRNA3 gene. In two recent (2008) studies, comprising over 6,000 lung cancer patients of European ancestry, the rs1051730(T) allele was very significantly associated with increased risk. Having one copy (i.e. being a rs1051730(C;T) genotype) increased risk for lung cancer about 1.3x, and having two copies (rs1051730(T;T) individuals) represented 1.8x increased risk. Up to 14% of lung cancer incidence may be attributable to this allele.www.snpedia.com/index.php/Rs1051730www.ncbi.nlm.nih.gov/clinvar/variation/17503/www.nature.com/articles/ng.109

rs28399504(A;G)rs28399504 is a SNP in the CYP2C19 gene, potentially encoding the CYP2C19*4 variant. This variant has been linked to poor metabolism of compounds like mephenytoin. It is also known as M1V or Met1Val. The risk allele is rs28399504(G). As a nonfunctioning CYP2C19, this variant would be expected to be a poor metabolizer of several commonly prescribed drugs, including anti-ulcer drugs like omeprazole (trade names Losec and Prilosec), esomeprazole (trade name Nexium), and lansoprazole (Prevacid).www.ncbi.nlm.nih.gov/clinvar/variation/16900/www.pharmgkb.org/variant/PA166154177/clinicalAnnotation

rs9272346(A;A)Moderat erhöhtes Risiko für Typ-1-Diabetes.In 2007 rs9272346 has been reported to be associated with type-1 diabetes in a "Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls" The risk allele is (A); the risk associated with the homozygous (AA) genotype was 18.5 fold higher than in controls. The P value was extremely significant at 5.47 × 10-134, considering the threshold for genome-wide significance. The homozygous (AA) genotype is found in approximately 1/3rd of all people, nevertheless this variation appears to significantly increase risk of Type-1 diabetes. The genotype changes your lifetime risk for Typ-1-Diabetes from very small (0.04%) to very small 0.75%. It has been noted that the (A) allele is common in various human populations, and one could consider the (G) allele as a protective allele.www.snpedia.com/index.php/Rs9272346www.nature.com/articles/nature05911.pdf

rs2395185(T;T) rs2395185 is a G/T single-nucleotide variation on human chromosome 6. A genome-wide association study using DNA samples from 1,052 individuals with ulcerative colitis and preexisting data from 2,571 controls, all of European ancestry, concluded that this SNP and several others were associated with altered risk for Ulcerative colitis, a chronic inflammatory disease of the colon that presents as diarrhea and gastrointestinal bleeding. The (TT) genotype was associated with a 0.58x lower risk of Ulcerative Colitis in European.www.snpedia.com/index.php/Rs2395185www.nature.com/articles/ng.275

Verändertes Risiko für Fettleibigkeit und/oder Diabetes (Typ 2):

rs1801282(C;G)rs1801282(C>G) is a common SNP in the peroxisome proliferator-activated receptor PPARG gene. The more common (C) allele (in dbSNP orientation) encodes the 'Pro' amino acid at this SNP position. The SNP.has been reported to be associated with metabolic syndrome in a study, but other studies have not been able to replicate any strong or significant effect. A ten-year study of 679 male patients with symptomatic coronary artery disease found that rs1801282(G) carriers had a much lower (10 year) cardiovascular risk, with the hazard ratio estimated to be 0.10 for ischemic heart disease and 0.24 for vascular death per copy of the allele. www.snpedia.com/index.php/Rs1801282

rs10830963(C;G)rs10830963 is a C/G single-nucleotide variation on human chromosome 11. A study totaling 19,000+ Europeans concluded that rs10830963 had the most influence of any MTNR1B gene SNP on the risk for type-2 diabetes. Specifically, the (G) allele increased the risk of isolated impaired fasting glycemia (OR=1.64, P=5.5x10(-11)) but not isolated impaired glucose tolerance. MTNR1B codes for Melatonin receptor MT2 or 1B. It has previously been associated with risk for type 2 diabetes and reduced insulin secretion. www.snpedia.com/index.php/Rs10830963

Leicht verändertes Risiko für Herz-Kreislauf-Erkrankungen

rs2200733(C;T)A SNP from chromosome 4q25, rs2200733, was found to be associated with atrial fibrillation in a study of both European and Asian populations. The odds ratio associated with one or more copies of either risk allele (T) was ~1.4x. The results derived from a study of 78 Italians with atrial fibrillation (AF) and atrial flutter (AFL) agree with previously reported findings from the Icelandic study. The variation affects the formation of the heart and gives a higher risk of Atrial Fibrillation (quivering of the top part of the heart), and Cardioembolic and Ischemic strokes (blocked blood flow to the brain). Patients with rs2200733 TT or CT showed an overall increased susceptibility to AF recurrence. www.snpedia.com/index.php/Rs2200733www.nature.com/articles/nature06007

rs660895(G;G)rs660895 is an A/G single-nucleotide variation on human chromosome 6. It represents a tag SNP for the HLA-DRB1*0401 allele. It has been associated with higher risk for rheumatoid arthritis. The association is seen particularly for individuals carrying two copies of the risk allele (G). The reported odds ratio for rs660895(G;G) homozygotes is 6.2 (CI: 1.01 - 37.9), meaning a 6x higher risk of rheumatoid arthritis. The risk for rheumatoid arthritis may also be increased for individuals carrying one copy (one "dose") of the HLA-DRB1*0401 allele, and a different HLA-DRB1 risk allele in addition. www.snpedia.com/index.php/Rs660895onlinelibrary.wiley.com/doi/10.1002/art.20588/pdf

rs7574865(G;T)rs7574865, a SNP in the third intron of the STAT4 gene, has been reported in a large study of Swedes to be associated with both rheumatoid arthritis (RA) and lupus (SLE). The finding has been confirmed in a meta-analysis of 8 studies totaling 7,381 patients and over 10,000 controls from both European and Asian populations. The risk allele is (T); the odds ratio associated the presence of a risk allele was 1.3 for rheumatoid arthritis and 1.55 for lupus (SLE).www.snpedia.com/index.php/rs7574865

rs6457617(T;T)rs6457617 is located on chromosome 6. This SNP has been reported in a large study to be associated with rheumatoid arthritis. Apparently it is the most statistically significant of many SNPs similarly located in the MHC region. The risk allele is (T); the odds ratio for homozygotes is 5.21.www.snpedia.com/index.php/Rs6457617www.nature.com/articles/nature05911.pdf

rs2511989(A;G)The SNP is located in the Complement 1 Inhibitor (C1INH/SERPING1). The heterozygous genotype has been associated with a 0.63x decreased age-related macular degeneration risk. www.snpedia.com/index.php/rs2511989

rs3775291(A;G)rs3775291 is a SNP in the TLR3 gene associated with an amino acid change in the corresponding protein. rs3775291 has been associated with one form of age related macular degeneration (ARMD), specifically, the form known as "dry" ARMD, also known as geographic atrophy. Heterozygotes seem to have a 0.71-fold decreased age-related macular degeneration risk. www.snpedia.com/index.php/Rs3775291

rs601338(A;A)rs601338(G>A) is located on chromosome 19 in the alpha(1,2)-fucosyltransferase FUT2 gene. The wild-type rs601338(G) encodes the "secretor" allele, while rs601338(A) encodes the "non-secretor" allele. A study of 115 Swedish adults concluded that rs601338(A;A) homozygotes have genetic immunity to infection by the Norwalk norovirus, a major (and contagious) cause of acute gastroenteritis among adults worldwide.www.snpedia.com/index.php/Rs601338jvi.asm.org/content/79/24/15351.long

rs61735130(T)rs61735130 is a C>T single-nucleotide variation on human chromosome 7. This SNP leads to an Arg289Cys substitution in the ASB10 protein . Mutations in ASB10 are distributed throughout the entire length of the gene including the two alternatively spliced variants of exon 1. Evidence is accumulating that mutations in the ASB10 gene are associated with Glaucoma 1, open angle, F.www.ncbi.nlm.nih.gov/clinvar/variation/99966/www.omim.org/entry/603383

rs9934438(C>T) 1173C>T polymorphism in the VKORC1 gene. The T allele frequency was 38.8%. Individuals with the TT genotype who are treated with warfarin may require a lower coumadin/warfarin dose compared to patients with the TC or CC genotype. Other genetic and clinical factors may also influence a patient's required dose of warfarin. Persons with at least one T-allele had a statistically significant 19% (95% CI 2 to 40%) risk increase of calcification of the aortic wall compared to CC homozygous persons.www.snpedia.com/index.php/Rs9934438www.ncbi.nlm.nih.gov/clinvar/variation/37344/https://www.pharmgkb.org/rsid/rs9934438

Gs122gs122 has been associated with a 7x increased risk of baldness among men. The haplotype gs122 is consisting of rs201571(T) - rs6036025(G) and rs1160312(A), at least in the Caucasian population. For rs1160312 the risk allele is assumed to be (A). The ability of gs122 to rule out going bald is reportedly high (in other words, if you are not positive for gs122, odds are good you will not go bald), but it is lacking in specificity (negative predictive value = 96.5%, positive predictive value = 12.2%, sensitivity = 98.2%, specificity = 6.6%). Male pattern baldness is probably one of the most heritable complex traits. www.snpedia.com/index.php/Gs122www.nature.com/ng/journal/v40/n11/full/ng.255.htmlwww.snpedia.com/index.php/Gs122

rs2180439(C;T) rs2180439 is located on chromosome 20p11 and has also been associated with male pattern baldness. No interaction was detected with the X-chromosomal androgen receptor locus, suggesting that the 20p11 locus has a role in a yet-to-be-identified androgen-independent pathway.www.snpedia.com/index.php/Rs2180439

Hohe Wahrscheinlichkeit für blaue Augen

rs12913832(G;G) Diese genetische Variante erklärt etwa die Hälfte der Unterschiede zwischen blauen und braunen Augen bei Europäern. rs12913832(G>A) is a SNP near the OCA2 gene that may be functionally linked to blue or brown eye color, due to a lowering of promoter activity of the OCA2 gene. Blue eye color is associated with the rs12913832(G;G) genotype.www.snpedia.com/index.php/Rs12913832

Charaktereigenschaften: optimistisch und empathisch

rs53576(G;G) rs53576(A>G). Studies have demonstrated that individuals with the G allele are more empathetic, feel less lonely, employ more sensitive parenting techniques, and have lower rates of autism.www.snpedia.com/index.php/Rs53576

Wahrnehmung von bitterem Geschmack

Gs227You are heterozygous at all 3 SNPs rs10246939(T;C), rs1726866(T;C), rs713598(G;C). The 3 SNPs are located in the gene TAS2R38. The SNPs are known to influence the ability to taste bitterness. This means you are better than average at detecting bitter tastes while young, but this ability will decrease to less than average during adulthood. As a child you will probably hate brussel sprouts, and by early adulthood will discover that olives and brussel sprouts now taste good. In 2010, a study showed that the change of bitter sensitivity over the lifespan (from bitter sensitive to less so) is more common in people with this genoset. www.snpedia.com/index.php/Gs227

Leicht erhöhte Stimulation durch Kaffee

gs157You appear to have a common genotype in the gene CYP1A2 which metabolizes coffee more slowly. The same amount of caffeine will tend to have more stimulating effect on slow metabolizers than on fast metabolizers. Note that Ciprofloxacin is also metabolized by CYP1A2, but is unclear if your genotype should influence its effect. You seem more stimulated by coffee. www.snpedia.com/index.php/Gs157

Möglicherweise erhöhtes Risiko für Alkohol-/Heroin-Abhängigkeit

rs1799971(A;G)The rs1799971(G) allele in exon 1 of the mu opioid receptor OPRM1 gene causes the normal amino acid at residue 40, asparagine (Asn), to be replaced by aspartic acid (Asp). Carriers of at least one rs1799971(G) allele appear to have stronger cravings for alcohol than carriers of two rs1799971(A) alleles, and are thus hypothesized to be more at higher risk for alcoholism. www.snpedia.com/index.php/rs1799971

rs324420(A;A)rs324420, also known as c.385C>A or Pro129Thr, is a SNP in the fatty acid amide hydrolase FAAH gene, which has shown associations with some substance use disorders. rs324420(C) encodes the more common Pro, while the (A) allele encodes the Thr. Among 80 individuals with drug abuse or alcoholism and over 1,000 controls, the odds ratio for risk of problem drug or alcohol use among rs324420(A;A) individuals was 4.5; the odds ratio for risk of street drug use was 2.2; and the odds ratio for risk of combined street drug use and problem drug/alcohol use was 4.9.www.snpedia.com/index.php/rs324420www.pnas.org/content/99/12/8394.full.pdf

rs1800497 rs1800497(C;T) 1800497(C>T), a SNP in the dopamine D2 receptor DRD2 gene. The minor allele (rs1800497(T)) is associated with a reduced number of dopamine binding sites in the brain, and has been postulated to play a role in alcoholism, smoking, and certain neuropsychiatric disorders. A wide variety of controversial reports have been published over more than ten years either linking rs1800497 to aspects of nicotine use and smoking cessation success, or finding no such association. A meta-analysis of 41 such studies published in 2004 concluded that overall the association of rs1800497 with such phenomena was statistically weak.More recently, a relatively large study investigated the success of the drug bupropion. It showed that smokers homozygous for the TT genotype were more successful than TC or CC individuals. Bupropion only helped TT genotype carriers to stop smoking.www.snpedia.com/index.php/Rs1800497www.pharmgkb.org/variant/PA166154339/clinicalAnnotationwww.ncbi.nlm.nih.gov/clinvar/variation/2105/

rs79556279(G;T) This SNP is also located on chromosome 6. A primary risk for Behçet's disease was associated with the minor (T) allele. A meta-analysis totalling ~5,000 Behçet's disease (BD) patients from 78 independent studies calculated a pooled odds ratio of 5.78 for HLA-B51/B5 allele carriers to develop BD compared with noncarriers. www.snpedia.com/index.php/Rs79556279www.pnas.org/content/111/24/8867.full.pdf

Erhöhtes Risiko für Herz-Kreislauf-Erkrankungen

rs2200733(C;T)A SNP from chromosome 4q25, rs2200733, was found to be associated with atrial fibrillation in a study of both European and Asian populations. The odds ratio associated with one or more copies of either risk allele (T) was ~1.4x. The results derived from a study of 78 Italians with atrial fibrillation (AF) and atrial flutter (AFL) agree with previously reported findings from the Icelandic study. The variation affects the formation of the heart and gives a higher risk of Atrial Fibrillation (quivering of the top part of the heart), and Cardioembolic and Ischemic strokes (blocked blood flow to the brain). Patients with rs2200733 TT or CT showed an overall increased susceptibility to AF recurrence.www.snpedia.com/index.php/Rs2200733www.nature.com/articles/nature06007

rs1333049(C;G)rs1333049(G>C) is located on chromosome 9. It has been reported in a large study to be associated with heart disease, in particular, coronary artery disease. The risk allele (oriented to the dbSNP entry) is most likely (C); the odds ratio associated with heterozygotes is 1.47. This SNP has also been reported to have the highest association of any SNP studied in a subsequent experiment conducted with the resources of the German MI [Myocardial Infarction] Family Study. It has been shown that regularly eating raw vegetables and fruit can reduce the risk to the same level as people without any copies of this SNP. www.snpedia.com/index.php/rs1333049www.ncbi.nlm.nih.gov/pmc/articles/PMC2719290/pdf/ukmss-4594.pdf

rs10830963(C;G)rs10830963(C>G) was significantly associated with higher fasting plasma glucose concentrations and reduced insulin release. A study totaling 19,000+ Europeans concluded that rs10830963 had the most influence of any gene SNP on the risk for type-2 diabetes. www.snpedia.com/index.php/rs10830963

rs1421085(C;T)rs1421085 is a C>T single-nucleotide variation on human chromosome 16 located in the first intron of the FTO (fat mass and obesity associated) gene on chromosome 16. This SNP showed the most association with obesity. Within the FTO gene, many SNPs appear to be co-inherited. www.snpedia.com/index.php/Rs1421085

rs1121980(C;T)rs1121980, is also located in the FTO gene. It showed the strongest association of several SNPs in the region with early onset obesity in a study of ~1,000 Caucasians. The odds ratio for the rs1121980(T) risk allele was 1.66; the odds ratios for heterozygotes was estmated at 1.67. www.snpedia.com/index.php/Rs1121980

rs9939609(A;T)rs9939609 is also a SNP in the fat mass and obesity associated FTO gene. The risk allele (oriented to the dbSNP entry) is (A); the odds ratio associated with heterozygotes is 1.34. So far, researchers identified 10 different FTO SNPs in the first intron of the gene that are associated with both BMI and type-2 diabetes. They all correlated with each other.www.snpedia.com/index.php/rs9939609

rs12255372(T;T)rs12255372, also known as IVS4G>T and c.483+9017G>T, is a well-studied SNP in the TCF7L2 gene on chromosome 10. In some studies, it has been linked to slight increases in risk for type-2 diabetes, breast cancer and aggressive prostate cancer. The reported risk for (TT) homozygotes is ~1.5x for type-2 diabetes.www.snpedia.com/index.php/rs12255372

Erhöhtes Risiko für Altersblindheit

rs5888(C;T) rs5888 is a SNP in the scavenger receptor class B, member 1 SCARB1 gene. In a case-control study of two 2,498 Caucasian patients, rs5888(C;T) heterozygotes had an increased odds ratio of 2.9 (CI: 1.6-5.3, p<0.002) for age-related macular degeneration (ARMD) based on a pooled analysis. www.snpedia.com/index.php/Rs5888

rs10490924(G;T)rs10490924, also known as c.205G>T, p.Ala69Ser and A69S, was identified as a risk factor from chromosome 10 related to age related macular degeneration. The risk allele is (T). Odd ratios for heterozygotes is 2.69.www.snpedia.com/index.php/Rs10490924

rs1333049(C;C)rs1333049 is located on chromosome 9. It has been reported in a large study to be associated with heart disease, in particular, coronary artery disease. The risk allele (oriented to the dbSNP entry) is most likely (C); the odds ratio associated with heterozygotes is 1.47 (CI 1.27-1.70), and for homozygotes, 1.9 (CI 1.61-2.24). This SNP has also been reported to have the highest association of any SNP studied in a subsequent experiment conducted with the resources of the German MI [Myocardial Infarction] Family Study. The initial studies were conducted on Caucasian populations. A subsequent study of Japanese and Korean patients has also found rs1333049 to be associated with increased coronary artery disease risk, with roughly similar odds ratios. Homozygous carriers of the CC genotype have an approx. 1.9x increased risk for CAD. It has been shown that regularly eating raw vegetables and fruit can reduce the risk to the same level as people without any copies of this SNP. www.snpedia.com/index.php/Rs1333049www.snpedia.com/index.php/rs1333049www.ncbi.nlm.nih.gov/pmc/articles/PMC2719290/pdf/ukmss-4594.pdf

rs10757278(G;G)rs10757278 is one of several SNPs clustered together in a region of chromosome 9 that has been linked to increased risk for heart disease and potentially diabetes. The overall estimate of heart disease cases that may involve this SNP (or related ones nearby) is said to be 20-30%. The risk allele is (G), which shows an increased association for myocardial infarctions ("MI"; heart attacks) both in general and more specifically in so-called early onset MI. The odds ratio for rs10757278(G;G) carriers relative to rs10757278(A:A) "noncarrier" individuals is 1.64 for Heart Attack 1.6x risk for Heart Attack; 1.3x risk for Abdominal Aortic Aneurysm and Brain Aneurysm. It has been shown that regularly eating raw vegetables and fruit can reduce the risk to the same level as people without any copies of this SNP. This SNP also increases risk of abdominal aortic aneurysm (weakened artery to the abdomen and legs), and brain aneurysm (weakened artery to the brain). Two other SNPs in this region with similar reports are rs10757274 and rs2383206. www.snpedia.com/index.php/rs2383206www.snpedia.com/index.php/rs10757278www.snpedia.com/index.php/rs10757278

rs10830963(C>G)was significantly associated with higher fasting plasma glucose concentrations and reduced insulin release. A study totaling 19,000+ Europeans concluded that rs10830963 had the most influence of any gene SNP on the risk for type-2 diabetes. www.snpedia.com/index.php/rs10830963

rs1421085is a C>T single-nucleotide variation on human chromosome 16 located in the first intron of the FTO (fat mass and obesity associated) gene on chromosome 16. This SNP showed the most association with obesity. Within the FTO gene, many SNPs appear to be co-inherited. www.snpedia.com/index.php/rs1421085

rs1121980is also located in the FTO gene. It showed the strongest association of several SNPs in the region with early onset obesity in a study of ~1,000 Caucasians. The odds ratio for the rs1121980(T) risk allele was 1.66; the odds ratios for heterozygotes was estmated at 1.67. www.snpedia.com/index.php/rs1121980

rs9939609is also a SNP in the fat mass and obesity associated FTO gene. The risk allele (oriented to the dbSNP entry) is (A); the odds ratio associated with heterozygotes is 1.34. So far, researchers identified 10 different FTO SNPs in the first intron of the gene that are associated with both BMI and type-2 diabetes. They all correlated with each other. www.snpedia.com/index.php/rs9939609

rs7754840(C>G)is a SNP in the CDKAL1 gene. Type-2 diabetes carriers of the (C;G) and (C;C) genotypes of rs7754840 had 11% and 24% lower first-phase insulin release. In (TT) homozygotes the risk for type-2 diabetes is slightly increased (1.3-fold). The Ashkenazi Jewish population shows a stronger effect for rs7754840 than the general Caucasian population, based on 1,131 cases versus 1,147 controls. www.snpedia.com/index.php/rs7754840

rs6679677is an A/C single-nucleotide variation on human chromosome 1 in the PHTF1 gene. It has been associated with rheumatoid arthritis. The (A) allele of this SNP has also been associated with a 1.8-fold risk of type 1 diabetes. www.snpedia.com/index.php/rs6679677

rs1061170(C;T)rs1061170 is a SNP in the complement factor H CFH gene; it is also known as Tyr402His or p.Y402H. The rs1061170(T) allele encodes the more common Tyr (Y), while the generally rarer rs1061170(C) encodes the His (H). This SNP has been associated with age related macular degeneration (AMD). Heterozygotes have an approx. 2.5x risk for AMD. Unter dem Begriff Makuladegeneration wird eine Gruppe von Erkrankungen der Netzhaut des Auges zusammengefasst, die die Macula lutea („Gelber Fleck“) betreffen. www.snpedia.com/index.php/Rs1061170

rs10491924(G;T)rs10490924, also known as c.205G>T, p.Ala69Ser and A69S, was identified as a risk factor from chromosome 10 related to age related macular degeneration. The risk allele is (T). Odds ratios for heterozygotes are 2.69. www.snpedia.com/index.php/rs10490924

rs3775291(A;A)Gefunden wurde aber auch eine genetische Variante, die mit einem geringeren Risiko für AMD assoziiert ist. rs3775291 is a SNP in the TLR3 gene associated with an amino acid change in the corresponding protein. In the orientation as shown in dbSNP, the more common rs3775291(G) allele encodes a leucine while the rarer rs3775291(A) allele encodes a phenylalanine.

rs3775291has been associated with the form known as "dry" ARMD, also known as geographic atrophy. A study of 3 case-control groups of Americans of European descent, comprising about 900 ARMD patients in total, indicated that having one rs3775291(A) allele reduces the odds of having dry ARMD about 30%, and being a rs3775291(A;A) homozygote cuts your odds by more than half to an odds ratio of 0.437. This was highly significant for the pooled populations and also in each population independently. www.snpedia.com/index.php/rs3775291

Gs259According to one publication gs259 is a blue eye color haplotype #3. However, it does not seem to be a reliable predictor of eye color. www.snpedia.com/index.php/Gs259

Charaktereigenschaften: optimistisch und empathisch

rs53576(G;G) rs53576(A>G). Studies have demonstrated that individuals with the G allele are more empathetic, feel less lonely, employ more sensitive parenting techniques, and have lower rates of autism. www.snpedia.com/index.php/Rs53576

Wahrnehmung von bitterem Geschmack:

Gs227 You are heterozygous at all 3 SNPs - rs10246939(T;C), rs1726866(T;C), rs713598(G;C). The 3 SNPs are located in the gene TAS2R38. The SNPs are known to influence the ability to taste bitterness. This means you are better than average at detecting bitter tastes while young, but this ability will decrease to less than average during adulthood. As a child you will probably hate brussel sprouts, and by early adulthood will discover that olives and brussel sprouts now taste good. In 2010, a study showed that the change of bitter sensitivity over the lifespan (from bitter sensitive to less so) is more common in people with this genoset. www.snpedia.com/index.php/Gs227

rs9934438(T:T) -> Coumadin (warfarin) resistance. rs9934438(C>T) 1173C>T polymorphism in the VKORC1 gene. The T allele frequency was 38.8%. Individuals with the TT genotype who are treated with warfarin may require a lower coumadin/warfarin dose compared to patients with the TC or CC genotype. Other genetic and clinical factors may also influence a patient's required dose of warfarin. Persons with at least one T-allele had a statistically significant 19% (95% CI 2 to 40%) risk increase of calcification of the aortic wall compared to CC homozygous persons. www.snpedia.com/index.php/Rs9934438www.ncbi.nlm.nih.gov/clinvar/variation/37344/https://www.pharmgkb.org/rsid/rs9934438

rs1333049(C;C)rs1333049 is located on chromosome 9. It has been reported in a large study to be associated with heart disease, in particular, coronary artery disease. The risk allele (oriented to the dbSNP entry) is most likely (C); the odds ratio associated with heterozygotes is 1.47 (CI 1.27-1.70), and for homozygotes, 1.9 (CI 1.61-2.24). This SNP has also been reported to have the highest association of any SNP studied in a subsequent experiment conducted with the resources of the German MI [Myocardial Infarction] Family Study. The initial studies were conducted on Caucasian populations. A subsequent study of Japanese and Korean patients has also found rs1333049 to be associated with increased coronary artery disease risk, with roughly similar odds ratios. Homozygous carriers of the CC genotype have an approx. 1.9x increased risk for CAD. It has been shown that regularly eating raw vegetables and fruit can reduce the risk to the same level as people without any copies of this SNP. www.snpedia.com/index.php/Rs1333049

Erhöhtes Risiko für Fettleibigkeit und Typ-2 Diabetes

The following SNPs were found: rs1421085(C;C), rs1121980(T;T), rs9939609(A;A), rs7754840(C;G)

rs1421085is a C>T single-nucleotide variation on human chromosome 16 located in the first intron of the FTO (fat mass and obesity associated) gene on chromosome 16. This SNP showed the most association with obesity. Within the FTO gene, many SNPs appear to be co-inherited. www.snpedia.com/index.php/rs1421085

rs1121980 C>Tis also located in the FTO gene. It showed the strongest association of several SNPs in the region with early onset obesity in a study of ~1,000 Caucasians. The odds ratio for the rs1121980(T) risk allele was 1.66; homozygotes have a moderate increase (2.76-fold) in risk for obesity. Note that although rs1121980 showed the strongest association, it is in a block in the FTO gene of at least 5 other SNPs that are in linkage disequilibrium.www.snpedia.com/index.php/rs1121980

rs9939609is also a SNP in the fat mass and obesity associated FTO gene. The risk allele (oriented to the dbSNP entry) is (A), and homozygotes have an increased risk of obesity. So far, researchers identified 10 different FTO SNPs in the first intron of the gene that are associated with both BMI and type-2 diabetes. They all correlated with each other. The other 5 SNPs are rs9939973, rs7193144, rs9940128, rs8050136, rs9939609. www.snpedia.com/index.php/rs9939609

rs7754840(C>G)is a SNP in the CDKAL1 gene. Type-2 diabetes carriers of the (C;G) and (C;C) genotypes of rs7754840 had 11% and 24% lower first-phase insulin release. In (CC) homozygotes the risk for type-2 diabetes is slightly increased (1.3-fold). The Ashkenazi Jewish population shows a stronger effect for rs7754840 than the general Caucasian population, based on 1,131 cases versus 1,147 controls. www.snpedia.com/index.php/rs7754840

Erhöhtes Risiko fürTyp-1 Diabetes

rs9272346(A;A)rs9272346 is a SNP in the HLA-DQA1 gene which codes for the alpha 1 subunit of the HLA-DQ MHC cell surface receptor, important for organ donation and immune diseases. In 2007 rs9272346 has been reported to be associated with type-1 diabetes in a "Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls" The risk allele is (A); the risk associated with the homozygous (AA) genotype was 18.5 fold higher than in controls. The P value was extremely significant, considering the threshold for genome-wide significance. The homozygous (AA) genotype is found in approximately 1/3rd of all people, nevertheless this variation appears to significantly increase risk of Type-1 diabetes. The genotype changes your lifetime risk for Typ-1-Diabetes from very small (0.04%) to still very small 0.75%. The risk allele (oriented to the dbSNP entry) is (A); the risk for homozygotes (AA) is 18.52 (CI 12.69-27.03). The P value is extremely significant, considering the threshold for genome-wide significance. www.snpedia.com/index.php/Rs9272346www.ncbi.nlm.nih.gov/pmc/articles/PMC2719288/pdf/ukmss-4894.pdfwww.snpedia.com/index.php/rs2395185

rs601338(A;A)rs601338(G>A) is located on chromosome 19 in the alpha(1,2)-fucosyltransferase FUT2 gene. The wild-type rs601338(G) encodes the "secretor" allele, while rs601338(A) encodes the "non-secretor" allele. A study of 115 Swedish adults concluded that rs601338(A;A) homozygotes have genetic immunity to infection by the Norwalk norovirus, a major (and contagious) cause of acute gastroenteritis among adults worldwide. www.snpedia.com/index.php/Rs601338

rs2241880(C;C)This SNP in the ATG16L1 gene encoding a threonine to alanine substitution ("T300A") in a protein known to be involved in the function of the epithelial cells lining the intestine, has been associated with Crohn's disease in several recent studies. Homozygous individuals have a 2x-3x increased risk for Crohn's disease in Caucasians. www.snpedia.com/index.php/Rs2241880www.ncbi.nlm.nih.gov/clinvar/variation/1130/

Gs227You are heterozygous at all 3 SNPs rs10246939(T;C), rs1726866(T;C), rs713598(G;C). The 3 SNPs are located in the gene TAS2R38. The SNPs are known to influence the ability to taste bitterness. This means you are better than average at detecting bitter tastes while young, but this ability will decrease to less than average during adulthood. As a child you will probably hate brussel sprouts, and by early adulthood will discover that olives and brussel sprouts now taste good. In 2010, a study showed that the change of bitter sensitivity over the lifespan (from bitter sensitive to less so) is more common in people with this genoset. www.snpedia.com/index.php/Gs227www.snpedia.com/index.php/Gs227

rs16969968(A;A)rs16969968 is a SNP in the CHRNA5 gene. This SNP has been associated with the smoking phenotype (p=0.007) based on an association study of 2,000+ individuals. Functional studies demonstrated that the risk allele decreased response to a nicotine agonist, therefore the rs16969968(A) allele is likely to be involved in nicotine dependence. rs16969968(A) allele was also significantly associated with "enhanced pleasurable responses" to a person's first cigarette. Recently, the SNP has been associated with heavy smoking, lung cancer, and chronic obstructive pulmonary disease in a Mexican population. www.snpedia.com/index.php/Rs16969968www.ncbi.nlm.nih.gov/pubmed/29993116

rs1800497(C;T) SNP also known as the TaqIA (or Taq1A) polymorphism of the dopamine D2 receptor DRD2 gene. It gives rise to the DRD2*A1 allele. rs1800497(T) is associated with a reduced number of dopamine binding sites in the brain. The reduced number of dopamine binding sites may play a role in nicotine addiction by causing an "understimulated" state that can be relieved by smoking (and/or use of other drugs). It may also be associated with reduced response to errors and increased addictive behavior. Bupropion is not effective for smoking cessation. www.snpedia.com/index.php/rs1800497https://www.ncbi.nlm.nih.gov/clinvar/variation/2105/

rs11591147(G;T)rs11591147, also known as R46L, is a SNP in the PCSK9 gene. As early as 2006, the minor rs11591147(T) allele was reported to be associated with lower LDL cholesterol levels, and most studies since have found that this also correlates to a two to three fold reduced risk for both early- and late-onset cardiovascular events and disease. As part of a 9 SNP set studied in a meta-analysis totaling over 300,000 patients, rs11591147 was the SNP with the greatest effect on LDL-C and therefore cardiovascular risk reduction.www.snpedia.com/index.php/Rs11591147www.ncbi.nlm.nih.gov/clinvar/variation/2878/

Erhöhtes Risiko für Herz-Kreislauf-Erkrankungen undSchlaganfall

rs2200733(C;T)A SNP from chromosome 4q25, rs2200733, was found to be associated with atrial fibrillation in a study of both European and Asian populations. The odds ratio associated with one or more copies of either risk allele (T) was ~1.4x. The results derived from a study of 78 Italians with atrial fibrillation (AF) and atrial flutter (AFL) agree with previously reported findings from the Icelandic study. The variation affects the formation of the heart and gives a higher risk of Atrial Fibrillation (quivering of the top part of the heart), and Cardioembolic and Ischemic strokes (blocked blood flow to the brain). Patients with rs2200733 TT or CT showed an overall increased susceptibility to AF recurrence www.snpedia.com/index.php/Rs2200733 www.nature.com/articles/nature06007

rs2943634(C;C)rs2943634 is a SNP found to be reproducibly associated with heart disease. The risk allele is (C). It has also been associated with high density lipoprotein (HDL) cholesterol and a slightly increased risk of ischemic stroke. www.snpedia.com/index.php/Rs2943634

rs1421085 is a C>T single-nucleotide variation on human chromosome 16 located in the first intron of the FTO (fat mass and obesity associated) gene on chromosome 16. This SNP showed the most association with obesity. Within the FTO gene, many SNPs appear to be co-inherited. www.snpedia.com/index.php/rs1421085

rs1121980 C>T is also located in the FTO gene. It showed the strongest association of several SNPs in the region with early onset obesity in a study of ~1,000 Caucasians. The odds ratio for the rs1121980(T) risk allele was 1.66; homozygotes have a moderate increase (2.76-fold) in risk for obesity. Note that although rs1121980 showed the strongest association, it is in a block in the FTO gene of at least 5 other SNPs that are in linkage disequilibrium.www.snpedia.com/index.php/rs1121980

rs9939609 is also a SNP in the fat mass and obesity associated FTO gene. The risk allele (oriented to the dbSNP entry) is (A), and heterozygotes have an increased risk of obesity. So far, researchers identified different FTO SNPs in the first intron of the gene that are associated with both BMI and type-2 diabetes. They all correlated with each other. The other 5 SNPs are rs9939973, rs7193144, rs9940128, rs8050136, rs9939609.www.snpedia.com/index.php/rs9939609

rs7754840(C>G) is a SNP in the CDKAL1 gene. Type-2 diabetes carriers of the (C;G) and (C;C) genotypes of rs7754840 had 11% and 24% lower first-phase insulin release. The Ashkenazi Jewish population shows a stronger effect for rs7754840 than the general Caucasian population, based on 1,131 cases versus 1,147 controls.www.snpedia.com/index.php/rs7754840

rs10830963(C>G) is located in the MTNR1B gene. It was significantly associated with higher fasting plasma glucose concentrations and reduced insulin release. A study totaling 19,000+ Europeans concluded that rs10830963 had the most influence of any gene SNP on the risk for type-2 diabetes. Specifically, the (G) allele increased the risk of isolated impaired fasting glycemia.www.snpedia.com/index.php/rs10830963

rs13266634 is a SNP in the zinc transporter protein member 8 SLC30A8 gene that has primarily been associated with type-2 diabetes in several studies. The major allele of the SLC30A8 SNP rs13266634 associated with reduced insulin secretion, but not with insulin resistance. 46% of European non-diabetic offspring of type-2 diabetes patients are rs13266634(C;C) homozygotes; they are diabetes-prone and characterised by a 19% decrease in first-phase insulin release following an intravenous glucose load.

rs7903146 is a SNP in TCF7L2 which influences the risk of Type-2 diabetes (T2D). This SNP is also known as IVS3C>T. rs7903146(T;T) strongly predicted future type-2 diabetes. This is one of two SNPs within the TCF7L2 gene that have been reported to be associated with type-2 diabetes, the other being rs4506565. The risk for heterozygotes is 1.4-fold increased.

rs12343867(C;T)This SNP is located in the Janus Kinase (JAK2) gene. This germline genetic variation affects disease susceptibility in primary myelofibrosis regardless of V617F mutational status. Carriers of the heterozygous genotype have an approximately 2x higher odds of developing V617F-positive MPN compared to people without the disease.www.snpedia.com/index.php/rs12343867

rs12340895(C;G) People with a G at rs12340895 have about two times the odds of developing V617F-positive MPN compared to people without the disease. The SNO belongs to the SNP group of the JAK2 46/1 haplotype.www.snpedia.com/index.php/rs12340895

Verändertes Risiko für Altersblindheit

rs5888(C;T) This SNP is in the scavenger receptor class B, member 1 SCARB1 gene. In a case-control study of two Caucasian populations totaling 2,498 patients, rs5888(C;T) heterozygotes had an increased odds ratio of 2.9 (CI: 1.6-5.3, p<0.002) for age-related macular degeneration.www.snpedia.com/index.php/Rs5888

rs10490924(G;T)rs10490924, also known as c.205G>T, p.Ala69Ser and A69S, was identified as a risk factor from chromosome 10 related to age related macular degeneration. The risk allele is (T). Odds ratios for heterozygotes are 2.69.www.snpedia.com/index.php/rs10490924

rs1061147(C;C)rs1061147 is located in the complement factor H gene (CFH). It may influence the risk for age related macular degeneration when part of the haplotype of rs1061170, rs3753394, rs800292 and rs1329428 (TGTC). Apparently, it does not do so alone. www.snpedia.com/index.php/rs1061147

rs17487223(T;T)rs17487223(TT) has been reported to increase susceptibility to Lung cancer 1.28 times. This genotype has also been shown to represent a risk factors for age-dependent nicotine addiction.hwww.snpedia.com/index.php/rs17487223

rs4143094(G;T) rs4143094(G>T) is a SNP located on chromosome 10p14, 7.2kb upstream of GATA binding protein 3 (GATA3), in the promoter region of the gene. The risk allele (T) was identified by a genome-wide diet-gene interaction analysis (GxE), and was found to be associated with increased risk of colon cancer. Heterozygotes have a slightly increased risk of 1.17. The SNP correlated to the dietary variable of processed meat consumption.www.snpedia.com/index.php/rs4143094www.ncbi.nlm.nih.gov/pmc/articles/PMC3990510/pdf/pgen.1004228.pdf

Gs227You are heterozygous at all 3 SNPs - rs10246939(T;C), rs1726866(T;C), rs713598(G;C). The 3 SNPs are located in the gene TAS2R38. The SNPs are known to influence the ability to taste bitterness. This means you are better than average at detecting bitter tastes while young, but this ability will decrease to less than average during adulthood. As a child you will probably hate brussel sprouts, and by early adulthood will discover that olives and brussel sprouts now taste good. In 2010, a study showed that the change of bitter sensitivity over the lifespan (from bitter sensitive to less so) is more common in people with this genoset. http://www.snpedia.com/index.php/Gs227

Gs159You have a common genotype in the gene CYP1A2 which metabolizes coffee more slowly. The same amount of caffeine will tend to have more stimulating effect on slow metabolizers than on fast metabolizers. Ciprofloxacin is also metabolized by CYP1A2, but is unclear if your genotype should influence its effect. You seem more stimulated by coffee.www.snpedia.com/index.php/Gs159

rs16969968(A;A)rs16969968(G>A) was associated with smoking phenotype (p=0.007) based on an association study in more than 2,000 individuals. Functional studies demonstrated that the risk allele decreased response level to a nicotine agonist, therefore the rs16969968(A) allele is likely to be involved in nicotine dependence. A study of 200 individuals replicated the association between this SNP and nicotine dependence, and also concluded that the rs16969968(A) allele was significantly associated with "enhanced pleasurable responses" to a person's first cigarette.www.snpedia.com/index.php/Rs16969968

rs279585(G;G)Carriers of at least one rs279858(G) allele respond slower to the effects of alcohol and are thereby apparently more prone to alcoholism than carriers of two rs279858(A) alleles.www.snpedia.com/index.php/Rs279858

Genetisch bedingt erhöhtes Gehirn (Hippocampus) Volumen

rs7294919(C;T)rs7294919 showed a particularly strong link to a reduced hippocampus volume, suggesting that this gene is very important to hippocampus development or health. The SNP is located between two genes, HRK and FBXW8. Evidence suggests that it influences the expression level of a gene 3’ to FBXW8, TESC. Each copy of the T allele was associated with a 107.8 mm3 decrease in hippocampal volume. In European populations, the effect allele (T) is found at frequency of 0.898. The minor allele (C) is found at a frequency of 0.102.The hippocampus is a critical brain structure involved in learning and memory. In particular, it is associated with the ability to form long-term memories of facts and events. This is in contrast to short-term and working memory, which have been shown to be independent of the hippocampus. Hippocampal size decreases with age and is diminished in several disorders including Alzheimer’s Disease, Major Depressive Disorder, Post-traumatic Stress Disorder, and Schizophrenia. Moreover, the size of the structure is heritable, with estimates of heritability ranging from 40-70%. Aging is associated with reductions in hippocampal volume that are accelerated by Alzheimer's disease and vascular risk factors. The rs7294919 was associated with hippocampal volume with a combined P value of 1.99 x 10-7. The authors also examined the association of the SNP with IQ. While no association was found with full-scale IQ, a small association was found between having the C (minor) allele and an increase in verbal IQ.www.snpedia.com/index.php/rs7294919www.nature.com/articles/ng.2237www.nature.com/articles/ng.2250

Charaktereigenschaften: optimistisch und empathisch

rs53576(G;G)rs53576(A>G). Studies have demonstrated that individuals with the G allele are more empathetic, feel less lonely, employ more sensitive parenting techniques, and have lower rates of autism.https://www.snpedia.com/index.php/Rs53576

rs1815739(C;C)This SNP is located in the ACTN3 gene and encodes a premature stop codon in a muscle protein called alpha-actinin-3. The polymorphism alters position 577 of the alpha-actinin-3 protein. This genotype indicates better performing muscles, particularly for sprinting and power sports. A study performed in 2016 failed to replicate the data which casts doubt. www.snpedia.com/index.php/Rs1815739

rs1799945(C;G) Träger einer genetischen Veränderung für eine rezessive Erbkrankheit des Eisenstoffwechsels – Hämochromatose – bei der der Körper überschüssiges Eisen ansammelt. Bei Früherkennung kann die Krankheit erfolgreich behandelt werden. Bei fortgeschrittener Erkrankung kann es zu irreversiblen Organschäden (Leber, Bauchspeicheldrüse, Herz, Gelenken, Milz, Hirnanhangdrüse, Schilddrüse und Haut) kommen. The most common form of hemochromatosis is caused by mutations in the HFE gene, which are inherited recessively. In 1996, HFE, a gene for HH, was found to have two missense mutations. rs1799945, also known as H63D or His63Asp, represents a SNP that accounts for a mild form of hereditary hemochromatosis (HH), an iron overload condition in which mutations of certain genes involved in iron metabolism disrupt the body’s ability to regulate uptake of iron, causing increased intestinal iron absorption. Individuals, carrying one mutated copy are likely unaffected unless also C282Y carrier. The second known mutation at amino acid 282 (C282Y) was found to be homozygous in 83 percent of patients with HH. This is a point mutation from guanine to adenine, resulting in a missense mutation from cysteine to tyrosine which is commonly found in people with European ancestry. Among individuals of northern European descent, hereditary hemochromatosis is the most common inherited genetic disorder.

A Historical Perspective on Hemochromatosis

The relatively high frequency of the C282Y mutation in people with European ancestry has prompted scientists to speculate that despite the dangers of high iron levels, there was at some point in the evolutionary past an advantage to having this genetic change. Several theories have been proposed. One is that variations in the HFE gene arose as people began farming and increased their consumption of cereal grains, which are lower in iron content than the red meat that predominated in stone age diets. Another theory is that increased iron levels were advantageous because they protected women against iron deficiency brought on by menstruation and childbirth. Another theory takes into account the fact that HH actually leads to a reduction of iron levels in macrophages, which may have given people an advantage in the past by making them resistant to certain infections. None of these theories has been proven.www.snpedia.com/index.php/rs1799945www.ncbi.nlm.nih.gov/clinvar/variation/10/www.omim.org/entry/235200de.wikipedia.org/wiki/H%C3%A4mochromatose

rs80356491(CAG;C) Träger für eine seltene (1:20000) Stoffwechselerkrankung (Glykogenspeichererkrankung), die autosomal rezessiv vererbt wird. Es kann zu einer Akkumulation von normal oder pathologisch strukturiertem Glykogen in Leber, Herz, Skelettmuskulatur und Zentralnervensystem kommen.This SNP leads to a frameshift due to a 2-bp deletion (1211-1212delCT) in the G6PT1 gene, resulting in a change in the reading frame after Ala347. In one study, patients in 2 families with glycogen storage disease Ib were homozygous for this SNP. Two further studies associated this common frameshift mutation with glycogen storage disease Ib. Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. The two subtypes (GSDIa and GSDIb) are clinically indistinguishable. www.ncbi.nlm.nih.gov/clinvar/variation/6926/www.omim.org/entry/602671#0006de.wikipedia.org/wiki/Glykogenspeicherkrankheit

Carrier of rs1799945(G;G) also known as H63D or His63Asp within the HFE gene, represents a SNP that accounts for a mild form of hereditary hemochromatosis (HH). The three most common HH-causing mutations in the HFE gene are C282Y (A at rs1800562 instead of G), H63D (G at rs1799945 instead of C), and S65C (T at i3002468 instead of A). The H63D mutation is quite common - about 20% of people carry a copy of the mutation, and about 3% have two copies. This mutation is not as severe as the C282Y mutation, and only a minority of carriers of the H63D mutation suffer from an iron overload.

The relatively high frequency of the C282Y mutation in people with European ancestry has prompted scientists to speculate that despite the dangers of high iron levels, there was at some point in the evolutionary past an advantage to having this genetic change. Several theories have been proposed. One is that variations in the HFE gene arose as people began farming and increased their consumption of cereal grains, which are lower in iron content than the red meat that predominated in stone age diets. Another theory is that increased iron levels were advantageous because they protected women against iron deficiency brought on by menstruation and childbirth. Another theory takes into account the fact that HH actually leads to a reduction of iron levels in macrophages, which may have given people an advantage in the past by making them resistant to certain infections. None of these theories has been proven.www.snpedia.com/index.php/rs1799945www.ncbi.nlm.nih.gov/clinvar/variation/10/www.omim.org/entry/235200de.wikipedia.org/wiki/H%C3%A4mochromatosewww.haemochromatose.ch/diagnose.php

rs1421085 is a C>T single-nucleotide variation on human chromosome 16 located in the first intron of the FTO (fat mass and obesity associated) gene on chromosome 16. This SNP showed the most association with obesity. Within the FTO gene, many SNPs appear to be co-inherited.www.snpedia.com/index.php/rs1421085

rs1121980 (C>T) is also located in the FTO gene. It showed the strongest association of several SNPs in the region with early onset obesity in a study of ~1,000 Caucasians. The odds ratio for the rs1121980(T) risk allele was 1.66; homozygotes have a moderate increase (2.76-fold) in risk for obesity. Note that although rs1121980 showed the strongest association, it is in a block in the FTO gene of at least 5 other SNPs that are in linkage disequilibrium. www.snpedia.com/index.php/rs1121980

rs9939609 (A>T) is also a SNP in the fat mass and obesity associated FTO gene. The risk allele (oriented to the dbSNP entry) is (A), and homozygotes have a 1.6-fold increased risk of obesity. So far, researchers identified different FTO SNPs in the first intron of the gene that are associated with both BMI and type-2 diabetes. They all correlated with each other.

rs7754840(C>G) is a SNP in the CDKAL1 gene. Type-2 diabetes carriers of the (C;G) and (C;C) genotypes of rs7754840 had 11% and 24% lower first-phase insulin release. The Ashkenazi Jewish population shows a stronger effect for rs7754840 than the general Caucasian population, based on 1,131 cases versus 1,147 controls. www.snpedia.com/index.php/rs7754840

rs10830963(C>G) is located in the MTNR1B gene. It was significantly associated with higher fasting plasma glucose concentrations and reduced insulin release. A study totaling 19,000+ Europeans concluded that rs10830963 had the most influence of any gene SNP on the risk for type-2 diabetes. Specifically, the (G) allele increased the risk of isolated impaired fasting glycemia. www.snpedia.com/index.php/rs10830963

rs7903146 is a SNP in TCF7L2 which influences the risk of Type-2 diabetes (T2D). This SNP is also known as IVS3C>T. rs7903146(T;T) strongly predicted future type-2 diabetes. This is one of two SNPs within the TCF7L2 gene that have been reported to be associated with type-2 diabetes, the other being rs4506565. The risk for homozygotes is 2-fold increased. www.snpedia.com/index.php/rs7903146

Erhöhtes Risiko für Thrombose und Schlaganfall

rs1799963(A;G)rs1799963 represents a SNP commonly known as the G20210A mutation of the prothrombin F2 gene. The (A;G) variant average risk for Venous Thromboembolism is 2.8, and risk was higher for younger subjects (< 45 years old, OR: 3.19; ≥ 45 years old, OR: 2.57) and for women taking oral contraceptives (women not using OCs, OR: 2.73; women using OCs, OR: 5.58). In addition, the SNP is associated with a significantly (2 - 20 fold) increased risk for ischemic stroke (aka cerebral ischemia) in individuals with patent foramen ovale (PFO), or a hole in the heart. It is estimated that this variant is present in ~25% of the (normal/healthy) population. Further analysis by outcome revealed that more the risk for cerebral venous sinus thrombosis was highest at 4.4 (based on 303 cases and 2,723 controls), whereas for venous thromboembolism OR was 3.0, and for venous thrombosis (w/o pulmonary embolism) OR 2.6. The AA variant risk was 6.74. Due to the interactions of the corresponding protein with the Factor V protein, SNPs in these two coagulation-related genes are often studied together. In particular, rs1799963 is often studied together with rs6025. However, the risk for thrombosis in carriers of rs6025 Factor V Leiden SNP variants is larger.www.snpedia.com/index.php/Rs1799963www.ncbi.nlm.nih.gov/clinvar/variation/13310/www.ncbi.nlm.nih.gov/pmc/articles/PMC3935237/pdf/nihms-547506.pdfwww.strokejournal.org/article/S1052-3057(12)00148-6/pdf

Geringeres Risiko für Herzkrankheiten und Arteriosklerose

rs4888378(G;A)rs4888378(A>G) is a SNP in the CFDP1 gene on chromosome 16. The locus of the BCAR1-CFDP1-TMEM170A has been identified as a determinant of Carotid Intima-Media Thickness and Coronary Artery Disease Risk. In women, slower carotid thickening with age has been observed (so presumably they have a lower atherosclerotic risk). The protective minor allele (A) was associated with lower carotid plaque score. www.snpedia.com/index.php/Rs4888378

Gs297 You belong to the ~40 % of people (depending on the population studied) who carry one minor allele at the two SNPs, rs1108580 and rs1611115. This genoset is reported as having 0.77x the risk of a heart attack or cardiovascular incident compared to people who carry neither of the two minor alleles, based on a study of 3,000 African-Americans enrolled in the Jackson Heart Study. www.snpedia.com/index.php/Gs297

rs7294919(C;T)rs7294919 is a C/T single-nucleotide variation on human chromosome 12. It has been associated with brain structure. rs7294919, showed a particularly strong link to a reduced hippocampus volume, suggesting that this gene is very important to hippocampus development or health. The hippocampus is a critical brain structure involved in learning and memory. In particular, it is associated with the ability to form long-term memories of facts and events. The SNP is located between two genes, HRK and FBXW8 and it influences the expression level of TESChttp://www.ncbi.nlm.nih.gov/gene/54997. In European populations, the effect allele is (T) found at frequency of 0.898. Hippocampal size decreases with age and is diminished in several disorders including Alzheimer’s Disease, Major Depressive Disorder, Post-traumatic Stress Disorder, and Schizophrenia. Moreover, the size of the structure is heritable, with estimates of heritability ranging from 40-70%. Aging is associated with reductions in hippocampal volume that are accelerated by Alzheimer's disease and vascular risk factors. The rs7294919 was associated with hippocampal volume with a combined P value of 1.99 x 10-7. While no association was found with full-scale IQ, a small association was found between having the C (minor) allele and an increase in verbal IQ.www.snpedia.com/index.php/rs7294919www.nature.com/articles/ng.2237www.nature.com/articles/ng.2250

rs5888(C;T) rs5888(C>T) is a SNP in the scavenger receptor class B, member 1 SCARB1 gene. In a case-control study of two 2,498 Caucasian patients, rs5888(C;T) heterozygotes had an increased odds ratio of 2.9 (CI: 1.6-5.3, p<0.002) for age-related macular degeneration (ARMD) based on a pooled analysis. www.snpedia.com/index.php/Rs5888

rs200970763(C;T) and rs202103485(C;T)rs200970763 is located in the PIEZO1 gene which has been reported as being associated with xerocytosis in a 2013 publication. However, the prevalence of xerocytosis in the population is around 1 in 50,000 individuals. The minor allele for both this variant and the linked rs20210345 are found in approx. 1 in 200 people. Thus, the observed frequency of the variants is at least 100-fold higher than the expected prevalence, and it is unlikely that either of these variants is actually causative for xerocystosis. www.ncbi.nlm.nih.gov/clinvar/variation/55813/

rs45575636(C;T) rs45575636, also known as c.1769G>A, p.Arg590Gln and R590Q, represents a variant in the ABCB4 gene on chromosome 7. The clinical significance of the quite rare rs45575636(A) allele is reported as "uncertain" in ClinVar. However, a possible connection to intrahepatic cholestasis of pregnancy cannot be excluded according to papers cited in OMIM 171060.0012. www.ncbi.nlm.nih.gov/clinvar/variation/13697/

rs1121980 (C>T) is located in the FTO gene. It showed the strongest association of several SNPs in the region with early onset obesity in a study of ~1,000 Caucasians. The odds ratio for the rs1121980(T) risk allele was 1.66; Note that although rs1121980 showed the strongest association, it is in a block in the FTO gene of at least 5 other SNPs that are in linkage disequilibrium. www.snpedia.com/index.php/rs1121980

rs7754840(C>G) is a SNP in the CDKAL1 gene. Type-2 diabetes carriers of the (C;G) and (C;C) genotypes of rs7754840 had 11% and 24% lower first-phase insulin release. The Ashkenazi Jewish population shows a stronger effect for rs7754840 than the general Caucasian population, based on 1,131 cases versus 1,147 controls. www.snpedia.com/index.php/rs7754840 Erhöhtes Risiko für Herz-Kreislauf-Erkrankungen und Schlaganfall

rs1333049(C;G) rs1333049(G>C) has been reported in a large study to be associated with heart disease, in particular, coronary artery disease. The risk allele (oriented to the dbSNP entry) is most likely (C); the odds ratio associated with heterozygotes is 1.47 (CI 1.27-1.70). This SNP has also been reported to have the highest association of any SNP studied in a subsequent experiment conducted with the resources of the German MI [Myocardial Infarction] Family Study. It has been shown that regularly eating raw vegetables and fruit can reduce the risk to the same level as people without any copies of this SNP. A subsequent study of Japanese and Korean patients has also found rs1333049 to be associated with increased coronary artery disease risk, with roughly similar odds ratios.www.snpedia.com/index.php/Rs1333049

rs2943634(C;C)rs2943634 is a C>G single-nucleotide variation on human chromosome 2. It has been associated with Fasting insulin-related traits (interaction with BMI) and reproducibly with heart disease. The risk allele is (C). It has also been associated with high density lipoprotein (HDL) cholesterol and a slightly increased risk of ischemic stroke.www.snpedia.com/index.php/Rs2943634

rs7089424(G;G) rs7089424(T>G) is a SNP in the ARID5B gene. Replication analysis confirms the association of ARID5B with childhood B-cell acute lymphoblastic leukemia. An ~4x increased risk has been reported in the Thai population. The variant may contribute to racial differences in leukemia incidence. In a Meta-analysis associations between an AT-rich Interactive Domain 5B and Risk of Childhood Acute Lymphoblastic Leukemia have been confirmed.www.snpedia.com/index.php/Rs7089424www.ncbi.nlm.nih.gov/pmc/articles/PMC2930966/pdf/0951608.pdf

rs12343867(C;T)This SNP is located in the Janus Kinase (JAK2) gene. This germline genetic variation affects disease susceptibility in primary myelofibrosis regardless of V617F mutational status. Carriers of the heterozygous genotype have an approximately 2x higher odds of developing V617F-positive MPN compared to people without the disease.www.snpedia.com/index.php/rs12343867

rs12340895(C;G)People with a G at rs12340895 have about two times the odds of developing V617F-positive MPN compared to people without the disease. The variant belongs to the SNP group of the JAK2 46/1 haplotype. www.snpedia.com/index.php/rs12340895

rs7294919(C;T) rs7294919 showed a particularly strong link to a reduced hippocampus volume, suggesting that this gene is very important to hippocampus development or health. The SNP is located between two genes, HRK and FBXW8. Evidence suggests that it influences the expression level of a gene 3’ to FBXW8, TESC. Each copy of the T allele was associated with a 107.8 mm3 decrease in hippocampal volume. In European populations, the effect allele (T) is found at frequency of 90%. The minor allele (C) is found at a frequency of 10%.The hippocampus is a critical brain structure involved in learning and memory. In particular, it is associated with the ability to form long-term memories of facts and events. This is in contrast to short-term and working memory, which have been shown to be independent of the hippocampus. Hippocampal size decreases with age and is diminished in several disorders including Alzheimer’s Disease, Major Depressive Disorder, Post-traumatic Stress Disorder, and Schizophrenia. Moreover, the size of the structure is heritable, with estimates of heritability ranging from 40-70%. Aging is associated with reductions in hippocampal volume that are accelerated by Alzheimer's disease and vascular risk factors. The rs7294919 was associated with hippocampal volume with a combined P value of 1.99 x 10-7. The authors also examined the association of the SNP with IQ. While no association was found with full-scale IQ, a small association was existed between having the C (minor) allele and an increase in verbal IQ.www.snpedia.com/index.php/rs7294919www.nature.com/articles/ng.2237www.nature.com/articles/ng.2250

Wahrnehmung von bitterem Geschmack

Gs227 You are heterozygous at all 3 SNPs - rs10246939(T;C), rs1726866(T;C), rs713598(G;C).The 3 SNPs are located in the gene TAS2R38. The SNPs are known to influence the ability to taste bitterness. This means you are better than average at detecting bitter tastes while young, but this ability will decrease to less than average during adulthood. As a child you will probably hate brussel sprouts, and by early adulthood will discover that olives and brussel sprouts now taste good. In 2010, a study showed that the change of bitter sensitivity over the lifespan (from bitter sensitive to less so) is more common in people with this genoset.www.snpedia.com/index.php/Gs227

Charaktereigenschaften

rs4680(A;A)rs4680(G>A) is a well studied SNP in the COMT gene. The COMT gene codes for the COMT enzyme, which breaks down dopamine in the brain's prefrontal cortex. The wild-type allele is a (G), coding for a valine amino acid; the (A) substitution polymorphism changes the amino acid to a methionine. This alters the structure of the resultant enzyme such that its activity is only 25% of the wild type. As a result, (A) allele carriers have more dopamine in their prefrontal cortex, which may be responsible for many of the neuropsychological associations listed below.

rs72550870(A;G) rs72550870 is located in the MASP2 gene. Our proband is a carrier for a variant possibly associated with MASP2 (Mannan-binding lectin serine protease 2) deficiency , defined as a MASP2 protein level of less than 100 ng/ml. The disease occurs in about 4% of Caucasians and up to 18% of some African populations. The inheritance is recessive. In homozygotes this variant may be associated with mildly elevated risk for infection and inflammatory diseases, however, some homozygous individuals never experience clinical symptoms. The penetrance (and pathogenicity) remains unclear for the time being.www.snpedia.com/index.php/Rs72550870www.ncbi.nlm.nih.gov/clinvar/variation/5210/www.omim.org/entry/613791

rs1799945(C;G)Die Probandin ist Trägerin einer genetischen Veränderung für eine rezessive Erbkrankheit des Eisenstoffwechsels – Hämochromatose – bei der der Körper überschüssiges Eisen ansammelt.The most common form of hemochromatosis is caused by mutations in the HFE gene, which are inherited recessively. In 1996, HFE, a gene for HH, was found to have two missense mutations: rs1799945(C>G), also known as H63D or His63Asp, represents a SNP that accounts for a mild form of hereditary hemochromatosis (HH), an iron overload condition in which mutations of certain genes involved in iron metabolism disrupt the body’s ability to regulate uptake of iron, causing increased intestinal iron absorption. Individuals, carrying one mutated copy are likely unaffected unless also C282Y carrier. The second known mutation at amino acid 282 (C282Y) was found to be homozygous in 83 percent of patients with HH. This is a point mutation from guanine to adenine, resulting in a missense mutation from cysteine to tyrosine which is commonly found in people with European ancestry. Among individuals of northern European descent, hereditary hemochromatosis is the most common inherited genetic disorder.

rs10509680(G;T), rs1057911(A;T), rs1057910(A;C)The variants detected in the proband are SNPs in the CYP2C9 gene that have been shown to be genetic determinants of warfarin responsiveness. Subjects who have been pre-classified according to the genotypes of SNP rs10509680 allowed identification of subjects who required higher dose of warfarin.

rs5888 is a SNP in the scavenger receptor class B, member 1 SCARB1 gene. In a case-control study of two 2,498 Caucasian patients, rs5888(C;T) heterozygotes had an increased odds ratio of 2.9 (CI: 1.6-5.3, p<0.002) for age-related macular degeneration (ARMD) based on a pooled analysis.

Gs1227-fold increased risk of baldness among men. Baldness is genetically associated with the haplotype gs122 consisting of rs201571(T) - rs6036025(G) and rs1160312(A), at least in the Caucasian population. The ability of Gs122 to rule out going bald is reportedly high (in other words, if you are not positive for Gs122, odds are good you will not go bald), but it is lacking in specificity (negative predictive value = 96.5%, positive predictive value = 12.2%, sensitivity = 98.2%, specificity = 6.6%).www.snpedia.com/index.php/Gs122www.nature.com/articles/ng.255

rs2180439(C;T) rs2180439(C>T) is a SNP on chromosome 20. The risk allele is (T). Carriers of a (T) have a slightly increased risk of Male Pattern Baldness. www.snpedia.com/index.php/rs2180439

Veränderter Folsäure-Metabolismus

rs1801133(C;T)rs1801133 is a SNP that is relatively common and has been studied for quite some time in many studies. It is also known as C677T, Ala222Val, and A222V. It encodes a variant in the MTHFR (Methylene Tetrahydrofolate) gene, which encodes an enzyme involved in folate metabolism. Homozygous rs1801133(T;T) individuals have ~30% of the expected MTHFR enzyme activity, and rs1801133(C;T) heterozygotes have ~65% activity, compared to the most common genotype, rs1801133(C;C). A meta-analysis found that the past two decades of scientific evidence relating to specific MTHFR-influenced health conditions was inconclusive or conflicting, with two exceptions, 1. women with two copies of C677T variant, 2. a very rare variant that may cause homocysteinuria. Thus, people should not interpret their genotypes at the common MTHFR variants as having an effect on their health.www.snpedia.com/index.php/rs1801133

rs1057910(C) wurde mit möglichen Nebenwirkungen bei einigen weit verbreiteten Medikamenten durch schlechten Metabolismus assoziiert. rs1057910(A>C) is a SNP located in the cytochrome p450 CYP2C9 gene. The A-allele encodes the amino acid isoleucine at position 359, and the resulting product is also known as CYP2C9*1. rs1057910(C) encodes a leucine at this same position, and the resulting allele is called CYP2C9*3. Individuals carrying this SNP may show increased risk of developing acute gastrointestinal bleeding during the use of NSAIDs that are CYP2C8 or CYP2C9 substrates, such as aceclofenac, celecoxib, diclofenac, ibuprofen, indomethazine, lornoxicam, meloxicam, naproxen, piroxicam, tenoxicam and valdecoxib. E.g. rs1057910(C;C) genotypes may clear drugs like celecoxib (trade name Celebrex) twice as slowly as rs1057910(A;A) genotypes; the rs1057910(A;C) genotypes are in-between clearance rates. Lower clearance rates will lead to higher internal concentrations of the drug. It is not clear whether this could lead to increased efficacy and/or increased side effects. Note: the effect of CYP2C9 variants on drug metabolism should not be predicted without also considering CYP2C9*2. www.snpedia.com/index.php/Rs1057910&nbsp;

rs11591147(G;T)rs11591147 is a SNP in the PCSK9 gene. The T-allele is associated with lower LDL cholesterol levels & two to three fold lower risk for both early- and late-onset cardiovascular disease. In a study on over 300,000 individuals rs11591147 was the SNP with the greatest effect on LDL-C and cardiovascular risk reduction. www.snpedia.com/index.php/rs11591147www.ncbi.nlm.nih.gov/clinvar/variation/2878/

Erhöhtes Risiko für Schlaganfall und Herz-Kreislauf-Erkrankungen

rs1333049(C;G)rs1333049(G>C) has been reported in a large study to be associated with heart disease, in particular, coronary artery disease. The risk allele (oriented to the dbSNP entry) is most likely (C); the odds ratio associated with heterozygotes is 1.47 (CI 1.27-1.70), and for homozygotes, 1.9 (CI 1.61-2.24). This SNP has also been reported to have the highest association of any SNP studied in a subsequent experiment conducted with the resources of the German MI [Myocardial Infarction] Family Study. It has been shown that regularly eating raw vegetables and fruit can reduce the risk to the same level as people without any copies of this SNP. www.snpedia.com/index.php/rs1333049

rs2943634(C;C)rs2943634 is a SNP found to be reproducibly associated with heart disease. The risk allele is (C). It has also been associated with high density lipoprotein (HDL) cholesterol and a slightly increased risk of ischemic stroke.www.snpedia.com/index.php/Rs2943634

The following SNPs were found: rs1421085(C;T), rs1121980(T;T), rs7754840(C;G)

rs1421085 is a C>T single-nucleotide variation on human chromosome 16 located in the first intron of the FTO (fat mass and obesity associated) gene on chromosome 16. This SNP showed the most association with obesity. Within the FTO gene, many SNPs appear to be co-inherited. www.snpedia.com/index.php/rs1421085

rs1121980 C>T is also located in the FTO gene. It showed the strongest association of several SNPs in the region with early onset obesity in a study of ~1,000 Caucasians. The odds ratio for the rs1121980(T) risk allele was 1.66; homozygotes have a moderate increase (2.76-fold) in risk for obesity. Note that although rs1121980 showed the strongest association, it is in a block in the FTO gene of at least 5 other SNPs that are in linkage disequilibrium. www.snpedia.com/index.php/rs1121980

rs7754840(C>G) is a SNP in the CDKAL1 gene. Type-2 diabetes carriers of the (C;G) and (C;C) genotypes of rs7754840 had 11% and 24% lower first-phase insulin release. The Ashkenazi Jewish population shows a stronger effect for rs7754840 than the general Caucasian population, based on 1,131 cases versus 1,147 controls.www.snpedia.com/index.php/rs7754840

The following SNPs were found: rs10974944(C;G);rs12343867(C;T); rs12340895(C;G); rs3780374(A;G)

These 4 SNPs (out of 5) are associated with the same haplotype (JAK2 46/1) and usually occur together. This haplotype appears to predispose to V617F-positive neoplasms. Neoplasie)

rs10974944(C>G) rs10974944 is a SNP in the Janus Kinase (JAK2) gene. The G allele of the JAK2 rs10974944 SNP, a part of JAK2 46/1 haplotype, is strongly associated with JAK2 V617F-positive myeloproliferative neoplasms. Carriers of the heterozygous genotype have an increased risk (2 - 4 fold?) of V617F-associated MPNswww.snpedia.com/index.php/Rs10974944

rs12343867(C;T)This SNP is located in the Janus Kinase (JAK2) gene. This germline genetic variation affects disease susceptibility in primary myelofibrosis regardless of V617F mutational status. Carriers of the heterozygous genotype have an approximately 2x higher odds of developing V617F-positive MPN compared to people without the disease. www.snpedia.com/index.php/rs12343867

rs12340895(C;G) This SNP is also located in the Janus Kinase (JAK2) gene. People with a G at rs12340895 have about two times the odds of developing V617F-positive MPN compared to people without the disease. The variant belongs to the SNP group of the JAK2 46/1 haplotype. www.snpedia.com/index.php/rs12340895

rs3780374(G;A)This SNP is also located in the Janus Kinase (JAK2) gene. Carriers of an (A) at rs3780374 in the JAK2 gene have about three times higher odds of developing V617F-positive MPN compared to individuals without the (A). www.snpedia.com/index.php/rs3780374

Wahrnehmung von bitterem Geschmack

Gs227You are heterozygous at all 3 SNPs - rs10246939(T;C), rs1726866(T;C), rs713598(G;C).The 3 SNPs are located in the gene TAS2R38. The SNPs are known to influence the ability to taste bitterness. This means you are better than average at detecting bitter tastes while young, but this ability will decrease to less than average during adulthood. As a child you will probably hate brussel sprouts, and by early adulthood will discover that olives and brussel sprouts now taste good. In 2010, a study showed that the change of bitter sensitivity over the lifespan (from bitter sensitive to less so) is more common in people with this genoset.www.snpedia.com/index.php/Gs227

rs1800562(A;G)This SNP is located in the HFE gene. It accounts for ~85% of all cases of hemochromostasis (when having 2 (A) alleles). In 1996, HFE, a gene for HH, was found to have two missense mutations in the coding region. These were: C282Y (A at rs1800562 instead of G) and H63D (G at rs1799945 instead of C).

rs1799945, also known as H63D or His63Asp, represents a SNP that accounts for a mild form of hereditary hemochromatosis (HH), an iron overload condition in which mutations of certain genes involved in iron metabolism disrupt the body’s ability to regulate uptake of iron, causing increased intestinal iron absorption. Individuals, carrying one mutated copy are likely unaffected unless also C282Y carrier.

The second known mutation rs1800562(G>A) at amino acid 282 (C282Y) was found to be homozygous in 83 percent of patients with HH. This is a point mutation from guanine to adenine, resulting in a missense mutation from cysteine to tyrosine which is commonly found in people with European ancestry. Among individuals of northern European descent, hereditary hemochromatosis is the most common inherited genetic disorder.

A Historical Perspective on Hemochromatosis

The relatively high frequency of the C282Y mutation in people with European ancestry has prompted scientists to speculate that despite the dangers of high iron levels, there was at some point in the evolutionary past an advantage to having this genetic change. Several theories have been proposed. One is that variations in the HFE gene arose as people began farming and increased their consumption of cereal grains, which are lower in iron content than the red meat that predominated in stone age diets. Another theory is that increased iron levels were advantageous because they protected women against iron deficiency brought on by menstruation and childbirth. Another theory takes into account the fact that HH actually leads to a reduction of iron levels in macrophages, which may have given people an advantage in the past by making them resistant to certain infections. None of these theories has been proven.www.snpedia.com/index.php/rs1800562www.ncbi.nlm.nih.gov/clinvar/variation/9/www.omim.org/entry/235200de.wikipedia.org/wiki/Hämochromatose

The following 5 SNPs were found: rs10974944(C;G);rs12343867(C;T); rs12340895(C;G); rs3780374(A;G); rs4495487(C;T)

These 5 SNPs are associated with the same haplotype (JAK2 46/1) and usually occur together. This haplotype appears to predispose to V617F-positive neoplasms)

rs10974944(C>G) rs10974944 is a SNP in the Janus Kinase (JAK2) gene. The G allele of the JAK2 rs10974944 SNP, a part of JAK2 46/1 haplotype, is strongly associated with JAK2 V617F-positive myeloproliferative neoplasms. Carriers of the heterozygous genotype have an increased risk (2 - 4 fold?) of V617F-associated MPNs www.snpedia.com/index.php/Rs10974944

rs12343867(C;T)This SNP is located in the Janus Kinase (JAK2) gene. This germline genetic variation affects disease susceptibility in primary myelofibrosis regardless of V617F mutational status. Carriers of the heterozygous genotype have an approximately 2x higher odds of developing V617F-positive MPN compared to people without the disease.www.snpedia.com/index.php/rs12343867

rs12340895(C;G)This SNP is also located in the Janus Kinase (JAK2) gene. People with a G at rs12340895 have about two times the odds of developing V617F-positive MPN compared to people without the disease. The variant belongs to the SNP group of the JAK2 46/1 haplotype. www.snpedia.com/index.php/rs12340895

rs3780374(G;A) This SNP is also located in the Janus Kinase (JAK2) gene. Carriers of an (A) at rs3780374 in the JAK2 gene have about three times higher odds of developing V617F-positive MPN compared to individuals without the (A). www.snpedia.com/index.php/rs3780374

rs4495487(T;C) The C allele of the JAK2 rs4495487 is an additional candidate locus that contributes to myeloproliferative neoplasm predisposition in the Japanese population. www.snpedia.com/index.php/rs4495487

rs1333049(C;G) rs1333049 is located on chromosome 9. It has been reported in a large study to be associated with heart disease, in particular, coronary artery disease. The risk allele (oriented to the dbSNP entry) is most likely (C); the odds ratio associated with heterozygotes is 1.47 (CI 1.27-1.70), and for homozygotes, 1.9 (CI 1.61-2.24). This SNP has also been reported to have the highest association of any SNP studied in a subsequent experiment conducted with the resources of the German MI [Myocardial Infarction] Family Study. The initial studies were conducted on Caucasian populations. A subsequent study of Japanese and Korean patients has also found rs1333049 to be associated with increased coronary artery disease risk, with roughly similar odds ratios. Homozygous carriers of the CC genotype have an approx. 1.9x increased risk for CAD. It has been shown that regularly eating raw vegetables and fruit can reduce the risk to the same level as people without any copies of this SNP. www.snpedia.com/index.php/rs1333049www.ncbi.nlm.nih.gov/pmc/articles/PMC2719290/pdf/ukmss-4594.pdf

Erhöhtes Risiko für Fettleibigkeit und Diabetes

The following variants were found: rs1421085(C;T), rs1121980(C;T), rs9939609(A;T), rs13266634(C;T)

rs1421085 is a C>T single-nucleotide variation on human chromosome 16 located in the first intron of the FTO (fat mass and obesity associated) gene on chromosome 16. This SNP showed the most association with obesity. Within the FTO gene, many SNPs appear to be co-inherited. www.snpedia.com/index.php/Rs1421085

rs1121980 is also located in the FTO gene. It showed the strongest association of several SNPs in the region with early onset obesity in a study of ~1,000 Caucasians. The odds ratio for the rs1121980(T) risk allele was 1.66; the odds ratios for heterozygotes was estmated at 1.67. www.snpedia.com/index.php/Rs1121980&nbsp;

rs9939609 is also a SNP in the fat mass and obesity associated FTO gene. The risk allele (oriented to the dbSNP entry) is (A); the odds ratio associated with heterozygotes is 1.34. So far, researchers identified 10 different FTO SNPs in the first intron of the gene that are associated with both BMI and type-2 diabetes. They all correlated with each other.www.snpedia.com/index.php/rs9939609

rs13266634 is a SNP in the zinc transporter protein member 8 SLC30A8 gene that has primarily been associated with type-2 diabetes in several studies. This SNP is also known as the Arg325Trp or R325W variant; the (C) allele encodes the arginine (R), and the (T) allele encodes the tryptophan (W). 46% of European non-diabetic offspring of type-2 diabetes patients are rs13266634(C;C) homozygotes; they are diabetes-prone and characterized by a 19% decrease in first-phase insulin release following an intravenous glucose load.www.snpedia.com/index.php/rs13266634&nbsp;

Moderat erhöhtes Risiko für Hirntumore vom Typ Gliom

rs55705857(A;G) rs55705857 is a SNP located in a relatively gene-poor area of chromosomal region 8q24.21, near other SNPs that have been associated with certain cancers (prostate and ovarian). A study of over 1,600 glioblastoma patients concluded that carriers of a rs55705857(G) allele are at 5 - 6 fold higher risk for developing a glioma disease subtype categorized by harboring IDH1 or IDH2 (somatic) mutations. These risk factors are among the highest ever reported for cancer-associated SNPs found in a SNP survey; nonetheless, keep in mind that glioblastomas are very rare, with on average 2 - 3 people per 100,000 diagnosed per year.www.nature.com/articles/ng.2388www.snpedia.com/index.php/rs55705857

Wahrnehmung von bitterem Geschmack

Gs227You are heterozygous at all 3 SNPs - rs10246939(T;C), rs1726866(T;C), rs713598(G;C).The 3 SNPs are located in the gene TAS2R38. The SNPs are known to influence the ability to taste bitterness. This means you are better than average at detecting bitter tastes while young, but this ability will decrease to less than average during adulthood. As a child you will probably hate brussel sprouts, and by early adulthood will discover that olives and brussel sprouts now taste good. In 2010, a study showed that the change of bitter sensitivity over the lifespan (from bitter sensitive to less so) is more common in people with this genoset.www.snpedia.com/index.php/Gs227&nbsp;

Leicht erhöhte Stimulation durch Kaffee

gs157You appear to have a common genotype in the gene CYP1A2 which metabolizes coffee more slowly. The same amount of caffeine will tend to have more stimulating effect on slow metabolizers than on fast metabolizers. Ciprofloxacin is also metabolized by CYP1A2, but is unclear if your genotype should influence its effect. You seem more stimulated by coffee.www.snpedia.com/index.php/Gs157

Wahrscheinlichkeit für blaue Augen

rs12913832(G;G)rs12913832 is a SNP near the OCA2 gene that may be functionally linked to blue or brown eye color, due to a lowering of promoter activity of the OCA2 gene. Blue eye color is associated with the rs12913832(G;G) genotype. rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter.www.snpedia.com/index.php/rs12913832www.sciencedirect.com/science/article/pii/S0002929707000407 journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1000993

rs10490924(G;T)rs1061170 is a SNP in the complement factor H CFH gene. The rs1061170(T) allele encodes the more common Tyr (Y), while the generally rarer rs1061170(C) encodes the His (H). This SNP has been associated with a 2.5-fold increased risk for age related macular degeneration.www.snpedia.com/index.php/rs10490924

Reduziertes Risiko für Glatzenbildung

rs6152(G>A), located in the first exon of the androgen receptor AR gene on the X chromosome, is highly indicative of the ability to develop male pattern baldness. The risk allele is (G). However, although it appears to be necessary for baldness to develop, other (as yet unknown) variations must also be present for baldness to actually occur. Since this SNP is on the X chromosome, and affects a trait primarily seen only in males, a single allele is shown as representing the individual's genotype. However, baldness may also occur in females, presumably only in females homozygous for rs6152(G;G) and also harboring the (as yet unknown) additional variations required for baldness.www.snpedia.com/index.php/rs6152www.nature.com/ng/journal/v40/n11/full/ng.255.html

Charaktereigenschaften: optimistisch und empathisch

rs53576(G;G)rs53576(A>G). Studies have demonstrated that individuals with the G allele are more empathetic, feel less lonely, employ more sensitive parenting techniques, and have lower rates of autism.www.snpedia.com/index.php/Rs53576

rs2070744(T;T) -> Cardiovascular differences. This is found in high frequency in male athletes doing power sports such as jumpers, throwers, and sprinters. There may be negative health consequences with increased risk of cardiovascular disorders.www.snpedia.com/index.php/Rs2070744

The most common form of hemochromatosis is caused by mutations in the HFE gene, which are inherited recessively. In 1996, HFE, a gene for HH, was found to have two missense mutations in the coding region.

rs1799945(C>G), also known as H63D or His63Asp, represents a SNP that accounts for a mild form of hereditary hemochromatosis (HH), an iron overload condition in which mutations of certain genes involved in iron metabolism disrupt the body’s ability to regulate uptake of iron, causing increased intestinal iron absorption. Individuals, carrying one mutated copy are likely unaffected unless also C282Y carrier. The second known mutation at amino acid 282 (C282Y) was found to be homozygous in 83 percent of patients with HH. This is a point mutation from guanine to adenine, resulting in a missense mutation from cysteine to tyrosine which is commonly found in people with European ancestry. Among individuals of northern European descent, hereditary hemochromatosis is the most common inherited genetic disorder.

A Historical Perspective on Hemochromatosis

The relatively high frequency of the C282Y mutation in people with European ancestry has prompted scientists to speculate that despite the dangers of high iron levels, there was at some point in the evolutionary past an advantage to having this genetic change. Several theories have been proposed. One is that variations in the HFE gene arose as people began farming and increased their consumption of cereal grains, which are lower in iron content than the red meat that predominated in stone age diets. Another theory is that increased iron levels were advantageous because they protected women against iron deficiency brought on by menstruation and childbirth. Another theory takes into account the fact that HH actually leads to a reduction of iron levels in macrophages, which may have given people an advantage in the past by making them resistant to certain infections. None of these theories has been proven.www.snpedia.com/index.php/rs1799945www.ncbi.nlm.nih.gov/clinvar/variation/10/www.omim.org/entry/235200

Myeloperoxidase deficiency The MPO gene encodes myeloperoxidase (EC 1.11.1.7), a lysosomal hemoprotein located in the granules of polymorphonuclear (PMN) leukocytes and monocytes. In response to stimulation, MPO is activated into a transient intermediate with potent antimicrobial oxidizing abilities (Goedken et al., 2007). Myeloperoxidase is part of the host defense system of human polymorphonuclear leukocytes, responsible for microbicidal activity against a wide range of organisms. In the stimulated PMN, MPO catalyzes the production of hypohalous acids and other toxic intermediates that greatly enhance PMN microbicidal activity. Increased systemic levels of myeloperoxidase (MPO) have been associated with risk of coronary artery disease (CAD). A genome wide association study (GWAS) for plasma MPO levels in 9260 sublects of European ancestry identified a chromosome 17q22 region near MPO that was significantly associated with plasma MPO levels.www.omim.org/entry/606989

rs33978901(C;T) rs33978901, also known as c.2771G>A, p.Arg924Gln and R924Q, is a SNP in the VWF gene on chromosome 12. The rarer rs33978901(T) allele leads to reductions in VWF and FVIII levels particularly in combination with blood group O. Its inheritance alone may be insufficient for the diagnosis of Von Willebrand disease, but it does appear to be associated with a further VWF level reduction in individuals with a second VWF mutation and it also contributes to population variance in VWF and FVIII levels according to a 2010 publication. www.snpedia.com/index.php/Rs33978901